Canonical Allele Identifier: CA359999546

Gene: MCCC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71650184G>A , CM000667.2:g.71650184G>A	GRCh38
NC_000005.9:g.70946011G>A , CM000667.1:g.70946011G>A	GRCh37
NC_000005.8:g.70981767G>A	NCBI36
NG_008882.1:g.67897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.3096+1G>A
ENST00000505787.8:n.3319+1G>A
ENST00000681968.1:c.981+1G>A	ENSP00000508143.1:n.981+1G>A
ENST00000681991.1:n.1572+1G>A
ENST00000682045.1:c.1344+1G>A	ENSP00000507329.1:n.1344+1G>A
ENST00000682175.1:n.836G>A
ENST00000682214.1:c.1095+1G>A	ENSP00000507336.1:n.1095+1G>A
ENST00000682231.1:n.506+1G>A
ENST00000682438.1:n.3487+1G>A
ENST00000682499.1:n.2309+1G>A
ENST00000682541.1:c.*386+1G>A	ENSP00000507673.1:n.*386+1G>A
ENST00000682640.1:n.1192+1G>A
ENST00000682667.1:n.1680+1G>A
ENST00000682687.1:c.*440+1G>A	ENSP00000507945.1:n.*440+1G>A
ENST00000682727.1:c.1479+1G>A	ENSP00000507393.1:n.1479+1G>A
ENST00000682876.1:c.1617+1G>A	ENSP00000508389.1:n.1617+1G>A
ENST00000683098.1:c.*176+1G>A	ENSP00000507670.1:n.*176+1G>A
ENST00000683258.1:c.*1209+1G>A	ENSP00000507448.1:n.*1209+1G>A
ENST00000683339.1:c.1272+1G>A	ENSP00000507758.1:n.1272+1G>A
ENST00000683403.1:c.1398+1G>A	ENSP00000507896.1:n.1398+1G>A
ENST00000683429.1:c.1095+1G>A	ENSP00000507697.1:n.1095+1G>A
ENST00000683789.1:c.1374+1G>A	ENSP00000507012.1:n.1374+1G>A
ENST00000683847.1:n.1658+1G>A
ENST00000683882.1:c.*429+1G>A	ENSP00000506735.1:n.*429+1G>A
ENST00000684024.1:c.*1159+1G>A	ENSP00000507175.1:n.*1159+1G>A
ENST00000684132.1:c.416+1G>A
ENST00000684254.1:c.*1214+1G>A	ENSP00000508001.1:n.*1214+1G>A
ENST00000684310.1:c.654+1G>A	ENSP00000507550.1:n.654+1G>A
ENST00000684473.1:n.887+1G>A
ENST00000684474.1:n.1124+1G>A
ENST00000684530.1:c.606+1G>A	ENSP00000507439.1:n.606+1G>A
ENST00000684686.1:n.1107+1G>A
ENST00000340941.11:c.1488+1G>A MANE Select	ENSP00000343657.6:n.1488+1G>A
ENST00000340941.10:c.1488+1G>A	ENSP00000343657.6:n.1488+1G>A
ENST00000509539.2:c.804+1G>A	ENSP00000425474.2:n.804+1G>A
ENST00000512218.6:c.*440+1G>A	ENSP00000423202.2:n.*440+1G>A
NM_022132.4:c.1488+1G>A	NP_071415.1:n.1488+1G>A
XM_005248567.1:c.1374+1G>A	XP_005248624.1:n.1374+1G>A
NM_001363147.1:c.1374+1G>A	NP_001350076.1:n.1374+1G>A
XR_001742172.1:n.1576+1G>A
NM_022132.5:c.1488+1G>A MANE Select	NP_071415.1:n.1488+1G>A