Canonical Allele Identifier: CA120008845

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71657051A>T , CM000667.2:g.71657051A>T	GRCh38
NC_000005.9:g.70952878A>T , CM000667.1:g.70952878A>T	GRCh37
NC_000005.8:g.70988634A>T	NCBI36
NG_008882.1:g.74764A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022132.5:c.*191A>T MANE Select	NP_071415.1:n.*191A>T
ENST00000340941.11:c.*191A>T MANE Select	ENSP00000343657.6:n.*191A>T
NM_001363147.1:c.*191A>T	NP_001350076.1:n.*191A>T
NM_022132.4:c.*191A>T	NP_071415.1:n.*191A>T
ENST00000340941.10:c.*191A>T	ENSP00000343657.6:n.*191A>T
ENST00000505435.4:n.3491A>T
ENST00000505787.8:n.3714A>T
ENST00000512218.6:c.*835A>T	ENSP00000423202.2:n.*835A>T
ENST00000681968.1:c.*191A>T	ENSP00000508143.1:n.*191A>T
ENST00000681991.1:n.1967A>T
ENST00000682045.1:c.*191A>T	ENSP00000507329.1:n.*191A>T
ENST00000682175.1:n.3715A>T
ENST00000682214.1:c.*191A>T	ENSP00000507336.1:n.*191A>T
ENST00000682231.1:n.901A>T
ENST00000682438.1:n.3882A>T
ENST00000682499.1:n.2704A>T
ENST00000682541.1:c.*781A>T	ENSP00000507673.1:n.*781A>T
ENST00000682640.1:n.1587A>T
ENST00000682667.1:n.2075A>T
ENST00000682687.1:c.*835A>T	ENSP00000507945.1:n.*835A>T
ENST00000682727.1:c.*191A>T	ENSP00000507393.1:n.*191A>T
ENST00000682876.1:c.*191A>T	ENSP00000508389.1:n.*191A>T
ENST00000683098.1:c.*571A>T	ENSP00000507670.1:n.*571A>T
ENST00000683258.1:c.*1604A>T	ENSP00000507448.1:n.*1604A>T
ENST00000683339.1:c.*191A>T	ENSP00000507758.1:n.*191A>T
ENST00000683403.1:c.*191A>T	ENSP00000507896.1:n.*191A>T
ENST00000683429.1:c.*191A>T	ENSP00000507697.1:n.*191A>T
ENST00000683789.1:c.*191A>T	ENSP00000507012.1:n.*191A>T
ENST00000683847.1:n.2118A>T
ENST00000683882.1:c.*824A>T	ENSP00000506735.1:n.*824A>T
ENST00000684024.1:c.*1554A>T	ENSP00000507175.1:n.*1554A>T
ENST00000684132.1:c.1086A>T
ENST00000684254.1:c.*1609A>T	ENSP00000508001.1:n.*1609A>T
ENST00000684310.1:c.1049A>T	ENSP00000507550.1:n.1049A>T
ENST00000684473.1:n.1282A>T
ENST00000684474.1:n.1519A>T
ENST00000684530.1:c.1001A>T	ENSP00000507439.1:n.1001A>T
ENST00000684686.1:n.1502A>T
XM_005248567.1:c.*191A>T	XP_005248624.1:n.*191A>T
XR_001742172.1:n.1971A>T