Canonical Allele Identifier: CA359986547

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71634981-A-G
• MyVariant Identifiers: chr5:g.70930808A>G (hg19) ; chr5:g.71634981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634981A>G , CM000667.2:g.71634981A>G	GRCh38
NC_000005.9:g.70930808A>G , CM000667.1:g.70930808A>G	GRCh37
NC_000005.8:g.70966564A>G	NCBI36
NG_008882.1:g.52694A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.798A>G
ENST00000505787.8:n.2682A>G
ENST00000509358.7:c.842A>G	ENSP00000420994.3:p.His281Arg
ENST00000509539.3:c.104A>G	ENSP00000425474.3:p.His35Arg
ENST00000510895.7:n.965A>G
ENST00000629193.3:c.728A>G	ENSP00000486535.2:p.His243Arg
ENST00000681968.1:c.335A>G	ENSP00000508143.1:p.His112Arg
ENST00000682045.1:c.698A>G	ENSP00000507329.1:p.His233Arg
ENST00000682214.1:c.449A>G	ENSP00000507336.1:p.His150Arg
ENST00000682499.1:n.1663A>G
ENST00000682541.1:c.842A>G	ENSP00000507673.1:p.His281Arg
ENST00000682687.1:c.842A>G	ENSP00000507945.1:p.His281Arg
ENST00000682727.1:c.842A>G	ENSP00000507393.1:p.His281Arg
ENST00000682876.1:c.971A>G	ENSP00000508389.1:p.His324Arg
ENST00000683098.1:c.803+2796A>G	ENSP00000507670.1:n.803+2796A>G
ENST00000683258.1:c.*563A>G	ENSP00000507448.1:n.*563A>G
ENST00000683339.1:c.626A>G	ENSP00000507758.1:p.His209Arg
ENST00000683403.1:c.813+29A>G	ENSP00000507896.1:n.813+29A>G
ENST00000683429.1:c.449A>G	ENSP00000507697.1:p.His150Arg
ENST00000683665.1:c.842A>G	ENSP00000507068.1:p.His281Arg
ENST00000683789.1:c.728A>G	ENSP00000507012.1:p.His243Arg
ENST00000683847.1:n.686A>G
ENST00000683882.1:c.842A>G	ENSP00000506735.1:p.His281Arg
ENST00000684024.1:c.*513A>G	ENSP00000507175.1:n.*513A>G
ENST00000684254.1:c.*568A>G	ENSP00000508001.1:n.*568A>G
ENST00000684310.1:c.104A>G	ENSP00000507550.1:p.His35Arg
ENST00000684530.1:c.104A>G	ENSP00000507439.1:p.His35Arg
ENST00000684652.1:n.1844A>G
ENST00000340941.11:c.842A>G MANE Select	ENSP00000343657.6:p.His281Arg
ENST00000340941.10:c.842A>G	ENSP00000343657.6:p.His281Arg
ENST00000505435.3:n.193A>G
ENST00000505787.7:n.656A>G
ENST00000509358.6:c.842A>G	ENSP00000420994.2:p.His281Arg
ENST00000509539.2:c.167A>G	ENSP00000425474.2:p.His56Arg
ENST00000510895.6:n.456A>G
ENST00000512218.6:c.728A>G	ENSP00000423202.2:p.His243Arg
ENST00000629193.2:c.728A>G	ENSP00000486535.1:p.His243Arg
NM_022132.4:c.842A>G	NP_071415.1:p.His281Arg
XM_005248567.1:c.728A>G	XP_005248624.1:p.His243Arg
XM_011543528.1:c.842A>G	XP_011541830.1:p.His281Arg
XM_011543529.1:c.842A>G	XP_011541831.1:p.His281Arg
NM_001363147.1:c.728A>G	NP_001350076.1:p.His243Arg
XM_011543529.2:c.842A>G	XP_011541831.1:p.His281Arg
XM_017009688.1:c.842A>G	XP_016865177.1:p.His281Arg
XR_001742172.1:n.882A>G
NM_022132.5:c.842A>G MANE Select	NP_071415.1:p.His281Arg