Canonical Allele Identifier: CA16617762

Gene: STAMBP

Linked Data

• ClinVar Variation Id: 424114
• ClinVar RCV Id: RCV000479666
• dbSNP Id: rs1064796803
• MyVariant Identifiers: chr2:g.74077567G>T (hg19) ; chr2:g.73850440G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73850440G>T , CM000664.2:g.73850440G>T	GRCh38
NC_000002.11:g.74077567G>T , CM000664.1:g.74077567G>T	GRCh37
NC_000002.10:g.73931075G>T	NCBI36
NG_033223.1:g.26525G>T
NG_033223.2:g.26530G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394073.6:c.932G>T	ENSP00000377636.1:p.Cys311Phe
ENST00000409707.6:c.932G>T	ENSP00000386548.1:p.Cys311Phe
ENST00000432295.7:c.932G>T	ENSP00000413874.3:p.Cys311Phe
ENST00000478946.2:c.*693G>T	ENSP00000508259.1:n.*693G>T
ENST00000486458.2:n.1350G>T
ENST00000536064.2:c.842G>T	ENSP00000443502.2:p.Cys281Phe
ENST00000682105.1:c.*693G>T	ENSP00000507182.1:n.*693G>T
ENST00000682157.1:c.932G>T	ENSP00000507848.1:p.Cys311Phe
ENST00000682329.1:n.2610G>T
ENST00000682351.1:c.932G>T	ENSP00000506833.1:p.Cys311Phe
ENST00000682352.1:c.842G>T	ENSP00000508197.1:p.Cys281Phe
ENST00000682379.1:c.932G>T	ENSP00000507081.1:p.Cys311Phe
ENST00000682387.1:c.*212G>T	ENSP00000508186.1:n.*212G>T
ENST00000682423.1:c.932G>T	ENSP00000507643.1:p.Cys311Phe
ENST00000682558.1:c.932G>T	ENSP00000507014.1:p.Cys311Phe
ENST00000682592.1:c.*868G>T	ENSP00000508170.1:n.*868G>T
ENST00000682683.1:n.2610G>T
ENST00000682747.1:n.3036G>T
ENST00000682784.1:c.*693G>T	ENSP00000507523.1:n.*693G>T
ENST00000682799.1:c.932G>T	ENSP00000507089.1:p.Cys311Phe
ENST00000682847.1:c.932G>T	ENSP00000507864.1:p.Cys311Phe
ENST00000682848.1:c.842G>T	ENSP00000506775.1:p.Cys281Phe
ENST00000682851.1:c.527G>T	ENSP00000507371.1:p.Cys176Phe
ENST00000682998.1:c.932G>T	ENSP00000507046.1:p.Cys311Phe
ENST00000683016.1:c.*868G>T	ENSP00000508373.1:n.*868G>T
ENST00000683027.1:n.2743G>T
ENST00000683036.1:c.932G>T	ENSP00000507639.1:p.Cys311Phe
ENST00000683149.1:c.*121G>T	ENSP00000507540.1:n.*121G>T
ENST00000683205.1:n.3075G>T
ENST00000683247.1:c.*54G>T	ENSP00000507237.1:n.*54G>T
ENST00000683304.1:c.*121G>T	ENSP00000508114.1:n.*121G>T
ENST00000683314.1:n.1056G>T
ENST00000683317.1:c.932G>T	ENSP00000507092.1:p.Cys311Phe
ENST00000683349.1:c.932G>T	ENSP00000507807.1:p.Cys311Phe
ENST00000683391.1:c.923G>T	ENSP00000506772.1:p.Cys308Phe
ENST00000683417.1:c.*121G>T	ENSP00000507770.1:n.*121G>T
ENST00000683434.1:c.929G>T	ENSP00000507622.1:p.Cys310Phe
ENST00000683465.1:n.1755G>T
ENST00000683518.1:c.932G>T	ENSP00000506865.1:p.Cys311Phe
ENST00000683530.1:c.932G>T	ENSP00000506920.1:p.Cys311Phe
ENST00000683582.1:c.*693G>T	ENSP00000506892.1:n.*693G>T
ENST00000683594.1:c.*784G>T	ENSP00000507459.1:n.*784G>T
ENST00000683718.1:c.*693G>T	ENSP00000507037.1:n.*693G>T
ENST00000683728.1:c.*693G>T	ENSP00000507079.1:n.*693G>T
ENST00000683818.1:c.932G>T	ENSP00000507658.1:p.Cys311Phe
ENST00000683852.1:c.932G>T	ENSP00000507717.1:p.Cys311Phe
ENST00000683877.1:c.965G>T	ENSP00000507446.1:p.Cys322Phe
ENST00000683902.1:c.923G>T	ENSP00000507096.1:p.Cys308Phe
ENST00000683928.1:c.*121G>T	ENSP00000507241.1:n.*121G>T
ENST00000684095.1:c.932G>T	ENSP00000506845.1:p.Cys311Phe
ENST00000684174.1:n.3359G>T
ENST00000684200.1:c.*868G>T	ENSP00000507468.1:n.*868G>T
ENST00000684312.1:c.932G>T	ENSP00000506958.1:p.Cys311Phe
ENST00000684321.1:c.932G>T	ENSP00000507156.1:p.Cys311Phe
ENST00000684337.1:c.*693G>T	ENSP00000508310.1:n.*693G>T
ENST00000684355.1:c.375+5178G>T	ENSP00000507974.1:n.375+5178G>T
ENST00000684426.1:c.*512G>T	ENSP00000507614.1:n.*512G>T
ENST00000684585.1:c.932G>T	ENSP00000507054.1:p.Cys311Phe
ENST00000684671.1:c.*2279G>T	ENSP00000507882.1:n.*2279G>T
ENST00000684697.1:c.*121G>T	ENSP00000506855.1:n.*121G>T
ENST00000684703.1:c.*693G>T	ENSP00000507569.1:n.*693G>T
ENST00000684716.1:c.932G>T	ENSP00000508172.1:p.Cys311Phe
ENST00000684758.1:c.*868G>T	ENSP00000507279.1:n.*868G>T
ENST00000684774.1:c.*693G>T	ENSP00000508267.1:n.*693G>T
ENST00000394070.7:c.932G>T MANE Select	ENSP00000377633.2:p.Cys311Phe
ENST00000339566.7:c.932G>T	ENSP00000344742.3:p.Cys311Phe
ENST00000394070.6:c.932G>T	ENSP00000377633.2:p.Cys311Phe
ENST00000394073.5:c.932G>T	ENSP00000377636.1:p.Cys311Phe
ENST00000409707.5:c.932G>T	ENSP00000386548.1:p.Cys311Phe
ENST00000432295.6:c.932G>T	ENSP00000413874.2:p.Cys311Phe
ENST00000486458.1:n.66G>T
NM_006463.4:c.932G>T	NP_006454.1:p.Cys311Phe
NM_201647.2:c.932G>T	NP_964010.1:p.Cys311Phe
NM_213622.2:c.932G>T	NP_998787.1:p.Cys311Phe
XM_005264088.2:c.932G>T	XP_005264145.1:p.Cys311Phe
XM_005264091.2:c.527G>T	XP_005264148.1:p.Cys176Phe
XM_011532483.1:c.932G>T	XP_011530785.1:p.Cys311Phe
XM_011532484.1:c.932G>T	XP_011530786.1:p.Cys311Phe
XM_011532485.1:c.932G>T	XP_011530787.1:p.Cys311Phe
XR_939651.1:n.1050G>T
XR_940245.1:n.1409-956C>A
NM_001353967.1:c.932G>T	NP_001340896.1:p.Cys311Phe
NM_001353968.1:c.932G>T	NP_001340897.1:p.Cys311Phe
NM_001353969.1:c.932G>T	NP_001340898.1:p.Cys311Phe
NM_001353970.1:c.932G>T	NP_001340899.1:p.Cys311Phe
NM_001353971.1:c.527G>T	NP_001340900.1:p.Cys176Phe
NM_001353972.1:c.527G>T	NP_001340901.1:p.Cys176Phe
NM_001353973.1:c.527G>T	NP_001340902.1:p.Cys176Phe
NM_001353974.1:c.527G>T	NP_001340903.1:p.Cys176Phe
NM_001353975.1:c.527G>T	NP_001340904.1:p.Cys176Phe
NM_001353976.1:c.527G>T	NP_001340905.1:p.Cys176Phe
NM_006463.5:c.932G>T	NP_006454.1:p.Cys311Phe
NM_201647.3:c.932G>T	NP_964010.1:p.Cys311Phe
NM_213622.3:c.932G>T	NP_998787.1:p.Cys311Phe
NR_148668.1:n.1030G>T
NR_148669.1:n.1030G>T
NR_148670.1:n.1154G>T
NR_148671.1:n.1488G>T
XM_011532483.3:c.932G>T	XP_011530785.1:p.Cys311Phe
XM_011532485.3:c.932G>T	XP_011530787.1:p.Cys311Phe
XM_024452533.1:c.932G>T	XP_024308301.1:p.Cys311Phe
XM_024452534.1:c.527G>T	XP_024308302.1:p.Cys176Phe
XR_002959405.1:n.1564-795C>A
NM_213622.4:c.932G>T MANE Select	NP_998787.1:p.Cys311Phe
NR_148668.2:n.980G>T
NR_148669.2:n.980G>T
NR_148670.2:n.1160G>T
NR_148671.2:n.1494G>T
NM_001353967.2:c.932G>T	NP_001340896.1:p.Cys311Phe
NM_001353968.2:c.932G>T	NP_001340897.1:p.Cys311Phe
NM_001353969.2:c.932G>T	NP_001340898.1:p.Cys311Phe
NM_001353970.2:c.932G>T	NP_001340899.1:p.Cys311Phe
NM_001353971.2:c.527G>T	NP_001340900.1:p.Cys176Phe
NM_001353972.2:c.527G>T	NP_001340901.1:p.Cys176Phe
NM_001353973.2:c.527G>T	NP_001340902.1:p.Cys176Phe
NM_001353974.2:c.527G>T	NP_001340903.1:p.Cys176Phe
NM_001353975.2:c.527G>T	NP_001340904.1:p.Cys176Phe
NM_001353976.2:c.527G>T	NP_001340905.1:p.Cys176Phe
NM_006463.6:c.932G>T	NP_006454.1:p.Cys311Phe
NM_201647.4:c.932G>T	NP_964010.1:p.Cys311Phe