Canonical Allele Identifier: CA390513755

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745087A>T (hg19) ; chr14:g.77278744A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278744A>T , CM000676.2:g.77278744A>T	GRCh38
NC_000014.8:g.77745087A>T , CM000676.1:g.77745087A>T	GRCh37
NC_000014.7:g.76814840A>T	NCBI36
NG_008897.1:g.47139T>A , LRG_844:g.47139T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.942T>A
ENST00000556394.2:c.1558T>A	ENSP00000451967.2:p.Ser520Thr
ENST00000682128.1:c.318T>A	ENSP00000506976.1:n.318T>A
ENST00000682247.1:c.2006T>A	ENSP00000507213.1:p.Leu669His
ENST00000682395.1:n.2481T>A
ENST00000682459.1:n.1720T>A
ENST00000682467.1:c.1892-236T>A	ENSP00000508062.1:n.1892-236T>A
ENST00000682615.1:n.371T>A
ENST00000682795.1:c.2164T>A	ENSP00000507574.1:p.Ser722Thr
ENST00000682895.1:n.1733T>A
ENST00000682955.1:n.1591T>A
ENST00000683095.1:c.423T>A	ENSP00000508040.1:n.423T>A
ENST00000683188.1:c.2278T>A
ENST00000683380.1:n.1681T>A
ENST00000683907.1:c.282T>A	ENSP00000507754.1:n.282T>A
ENST00000684172.1:c.393T>A	ENSP00000508391.1:n.393T>A
ENST00000684259.1:n.3784T>A
ENST00000684538.1:n.1396T>A
ENST00000684549.1:n.1568T>A
ENST00000261534.9:c.2017T>A MANE Select	ENSP00000261534.4:p.Ser673Thr
ENST00000261534.8:c.2017T>A	ENSP00000261534.4:p.Ser673Thr
ENST00000452340.7:n.2993T>A
ENST00000554767.5:n.2803T>A
ENST00000555710.1:c.378T>A	ENSP00000451730.1:n.378T>A
ENST00000556394.1:c.88-236T>A
ENST00000556446.1:n.318T>A
ENST00000602717.5:c.232T>A	ENSP00000487704.1:p.Ser78Thr
NM_013382.5:c.2017T>A , LRG_844t1:c.2017T>A	NP_037514.2:p.Ser673Thr
XM_011536675.1:c.2206T>A	XP_011534977.1:p.Ser736Thr
XM_011536676.1:c.1873T>A	XP_011534978.1:p.Ser625Thr
XM_011536677.1:c.1747T>A	XP_011534979.1:p.Ser583Thr
XM_011536679.1:c.1300T>A	XP_011534981.1:p.Ser434Thr
XR_943416.1:n.2270T>A
XM_011536675.2:c.2206T>A	XP_011534977.1:p.Ser736Thr
XM_011536676.2:c.1873T>A	XP_011534978.1:p.Ser625Thr
XM_011536677.3:c.1747T>A	XP_011534979.1:p.Ser583Thr
XR_001750279.1:n.2303T>A
XR_001750282.1:n.2956T>A
XR_943416.3:n.2268T>A
NM_013382.6:c.2017T>A	NP_037514.2:p.Ser673Thr
NM_013382.7:c.2017T>A MANE Select	NP_037514.2:p.Ser673Thr