Canonical Allele Identifier: CA444801236

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635241-C-A
• MyVariant Identifiers: chr5:g.70931068C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635241C>A , CM000667.2:g.71635241C>A	GRCh38
NC_000005.9:g.70931068C>A , CM000667.1:g.70931068C>A	GRCh37
NC_000005.8:g.70966824C>A	NCBI36
NG_008882.1:g.52954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.950C>A
ENST00000505787.8:n.2834C>A
ENST00000509358.7:c.994C>A	ENSP00000420994.3:p.Arg332=
ENST00000509539.3:c.256C>A	ENSP00000425474.3:p.Arg86=
ENST00000510895.7:n.1117C>A
ENST00000629193.3:c.880C>A	ENSP00000486535.2:p.Arg294=
ENST00000681968.1:c.487C>A	ENSP00000508143.1:p.Arg163=
ENST00000682045.1:c.850C>A	ENSP00000507329.1:p.Arg284=
ENST00000682214.1:c.601C>A	ENSP00000507336.1:p.Arg201=
ENST00000682499.1:n.1815C>A
ENST00000682541.1:c.994C>A	ENSP00000507673.1:p.Arg332=
ENST00000682687.1:c.994C>A	ENSP00000507945.1:p.Arg332=
ENST00000682727.1:c.994C>A	ENSP00000507393.1:p.Arg332=
ENST00000682876.1:c.1123C>A	ENSP00000508389.1:p.Arg375=
ENST00000683098.1:c.803+3056C>A	ENSP00000507670.1:n.803+3056C>A
ENST00000683258.1:c.*715C>A	ENSP00000507448.1:n.*715C>A
ENST00000683339.1:c.778C>A	ENSP00000507758.1:p.Arg260=
ENST00000683403.1:c.904C>A	ENSP00000507896.1:p.Arg302=
ENST00000683429.1:c.601C>A	ENSP00000507697.1:p.Arg201=
ENST00000683665.1:c.994C>A	ENSP00000507068.1:p.Arg332=
ENST00000683789.1:c.880C>A	ENSP00000507012.1:p.Arg294=
ENST00000683847.1:n.838C>A
ENST00000683882.1:c.994C>A	ENSP00000506735.1:p.Arg332=
ENST00000684024.1:c.*665C>A	ENSP00000507175.1:n.*665C>A
ENST00000684254.1:c.*720C>A	ENSP00000508001.1:n.*720C>A
ENST00000684310.1:c.165+199C>A	ENSP00000507550.1:n.165+199C>A
ENST00000684530.1:c.256C>A	ENSP00000507439.1:p.Arg86=
ENST00000684652.1:n.1996C>A
ENST00000340941.11:c.994C>A MANE Select	ENSP00000343657.6:p.Arg332=
ENST00000340941.10:c.994C>A	ENSP00000343657.6:p.Arg332=
ENST00000505435.3:n.345C>A
ENST00000509358.6:c.994C>A	ENSP00000420994.2:p.Arg332=
ENST00000509539.2:c.319C>A	ENSP00000425474.2:p.Arg107=
ENST00000510895.6:n.608C>A
ENST00000512218.6:c.880C>A	ENSP00000423202.2:p.Arg294=
ENST00000629193.2:c.880C>A	ENSP00000486535.1:p.Arg294=
NM_022132.4:c.994C>A	NP_071415.1:p.Arg332=
XM_005248567.1:c.880C>A	XP_005248624.1:p.Arg294=
XM_011543528.1:c.994C>A	XP_011541830.1:p.Arg332=
XM_011543529.1:c.994C>A	XP_011541831.1:p.Arg332=
NM_001363147.1:c.880C>A	NP_001350076.1:p.Arg294=
XM_011543529.2:c.994C>A	XP_011541831.1:p.Arg332=
XM_017009688.1:c.994C>A	XP_016865177.1:p.Arg332=
XR_001742172.1:n.1034C>A
NM_022132.5:c.994C>A MANE Select	NP_071415.1:p.Arg332=