Canonical Allele Identifier: CA560455942

Gene: MCCC2

Linked Data

• dbSNP Id: rs1262698105
• gnomAD v2: 5-70931198-G-A
• gnomAD v4: 5-71635371-G-A
• MyVariant Identifiers: chr5:g.70931198G>A (hg19) ; chr5:g.71635371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635371G>A , CM000667.2:g.71635371G>A	GRCh38
NC_000005.9:g.70931198G>A , CM000667.1:g.70931198G>A	GRCh37
NC_000005.8:g.70966954G>A	NCBI36
NG_008882.1:g.53084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.955+125G>A
ENST00000505787.8:n.2839+125G>A
ENST00000509358.7:c.999+125G>A	ENSP00000420994.3:n.999+125G>A
ENST00000509539.3:c.261+125G>A	ENSP00000425474.3:n.261+125G>A
ENST00000510895.7:n.1247G>A
ENST00000629193.3:c.885+125G>A	ENSP00000486535.2:n.885+125G>A
ENST00000681968.1:c.492+125G>A	ENSP00000508143.1:n.492+125G>A
ENST00000682045.1:c.855+125G>A	ENSP00000507329.1:n.855+125G>A
ENST00000682214.1:c.606+125G>A	ENSP00000507336.1:n.606+125G>A
ENST00000682499.1:n.1820+125G>A
ENST00000682541.1:c.999+125G>A	ENSP00000507673.1:n.999+125G>A
ENST00000682687.1:c.999+125G>A	ENSP00000507945.1:n.999+125G>A
ENST00000682727.1:c.999+125G>A	ENSP00000507393.1:n.999+125G>A
ENST00000682876.1:c.1128+125G>A	ENSP00000508389.1:n.1128+125G>A
ENST00000683098.1:c.803+3186G>A	ENSP00000507670.1:n.803+3186G>A
ENST00000683258.1:c.*720+125G>A	ENSP00000507448.1:n.*720+125G>A
ENST00000683339.1:c.783+125G>A	ENSP00000507758.1:n.783+125G>A
ENST00000683403.1:c.909+125G>A	ENSP00000507896.1:n.909+125G>A
ENST00000683429.1:c.606+125G>A	ENSP00000507697.1:n.606+125G>A
ENST00000683665.1:c.999+125G>A	ENSP00000507068.1:n.999+125G>A
ENST00000683789.1:c.885+125G>A	ENSP00000507012.1:n.885+125G>A
ENST00000683847.1:n.843+125G>A
ENST00000683882.1:c.999+125G>A	ENSP00000506735.1:n.999+125G>A
ENST00000684024.1:c.*670+125G>A	ENSP00000507175.1:n.*670+125G>A
ENST00000684254.1:c.*725+125G>A	ENSP00000508001.1:n.*725+125G>A
ENST00000684310.1:c.165+329G>A	ENSP00000507550.1:n.165+329G>A
ENST00000684530.1:c.261+125G>A	ENSP00000507439.1:n.261+125G>A
ENST00000684652.1:n.2126G>A
ENST00000340941.11:c.999+125G>A MANE Select	ENSP00000343657.6:n.999+125G>A
ENST00000340941.10:c.999+125G>A	ENSP00000343657.6:n.999+125G>A
ENST00000505435.3:n.350+125G>A
ENST00000509358.6:c.999+125G>A	ENSP00000420994.2:n.999+125G>A
ENST00000509539.2:c.324+125G>A	ENSP00000425474.2:n.324+125G>A
ENST00000510895.6:n.738G>A
ENST00000512218.6:c.885+125G>A	ENSP00000423202.2:n.885+125G>A
ENST00000629193.2:c.885+125G>A	ENSP00000486535.1:n.885+125G>A
NM_022132.4:c.999+125G>A	NP_071415.1:n.999+125G>A
XM_005248567.1:c.885+125G>A	XP_005248624.1:n.885+125G>A
XM_011543528.1:c.999+125G>A	XP_011541830.1:n.999+125G>A
XM_011543529.1:c.999+125G>A	XP_011541831.1:n.999+125G>A
NM_001363147.1:c.885+125G>A	NP_001350076.1:n.885+125G>A
XM_011543529.2:c.999+125G>A	XP_011541831.1:n.999+125G>A
XM_017009688.1:c.999+125G>A	XP_016865177.1:n.999+125G>A
XR_001742172.1:n.1039+125G>A
NM_022132.5:c.999+125G>A MANE Select	NP_071415.1:n.999+125G>A