Canonical Allele Identifier: CA359987571

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931007A>C (hg19) ; chr5:g.71635180A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635180A>C , CM000667.2:g.71635180A>C	GRCh38
NC_000005.9:g.70931007A>C , CM000667.1:g.70931007A>C	GRCh37
NC_000005.8:g.70966763A>C	NCBI36
NG_008882.1:g.52893A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.889A>C
ENST00000505787.8:n.2773A>C
ENST00000509358.7:c.933A>C	ENSP00000420994.3:p.Leu311Phe
ENST00000509539.3:c.195A>C	ENSP00000425474.3:p.Leu65Phe
ENST00000510895.7:n.1056A>C
ENST00000629193.3:c.819A>C	ENSP00000486535.2:p.Leu273Phe
ENST00000681968.1:c.426A>C	ENSP00000508143.1:p.Leu142Phe
ENST00000682045.1:c.789A>C	ENSP00000507329.1:p.Leu263Phe
ENST00000682214.1:c.540A>C	ENSP00000507336.1:p.Leu180Phe
ENST00000682499.1:n.1754A>C
ENST00000682541.1:c.933A>C	ENSP00000507673.1:p.Leu311Phe
ENST00000682687.1:c.933A>C	ENSP00000507945.1:p.Leu311Phe
ENST00000682727.1:c.933A>C	ENSP00000507393.1:p.Leu311Phe
ENST00000682876.1:c.1062A>C	ENSP00000508389.1:p.Leu354Phe
ENST00000683098.1:c.803+2995A>C	ENSP00000507670.1:n.803+2995A>C
ENST00000683258.1:c.*654A>C	ENSP00000507448.1:n.*654A>C
ENST00000683339.1:c.717A>C	ENSP00000507758.1:p.Leu239Phe
ENST00000683403.1:c.843A>C	ENSP00000507896.1:p.Leu281Phe
ENST00000683429.1:c.540A>C	ENSP00000507697.1:p.Leu180Phe
ENST00000683665.1:c.933A>C	ENSP00000507068.1:p.Leu311Phe
ENST00000683789.1:c.819A>C	ENSP00000507012.1:p.Leu273Phe
ENST00000683847.1:n.777A>C
ENST00000683882.1:c.933A>C	ENSP00000506735.1:p.Leu311Phe
ENST00000684024.1:c.*604A>C	ENSP00000507175.1:n.*604A>C
ENST00000684254.1:c.*659A>C	ENSP00000508001.1:n.*659A>C
ENST00000684310.1:c.165+138A>C	ENSP00000507550.1:n.165+138A>C
ENST00000684530.1:c.195A>C	ENSP00000507439.1:p.Leu65Phe
ENST00000684652.1:n.1935A>C
ENST00000340941.11:c.933A>C MANE Select	ENSP00000343657.6:p.Leu311Phe
ENST00000340941.10:c.933A>C	ENSP00000343657.6:p.Leu311Phe
ENST00000505435.3:n.284A>C
ENST00000509358.6:c.933A>C	ENSP00000420994.2:p.Leu311Phe
ENST00000509539.2:c.258A>C	ENSP00000425474.2:p.Leu86Phe
ENST00000510895.6:n.547A>C
ENST00000512218.6:c.819A>C	ENSP00000423202.2:p.Leu273Phe
ENST00000629193.2:c.819A>C	ENSP00000486535.1:p.Leu273Phe
NM_022132.4:c.933A>C	NP_071415.1:p.Leu311Phe
XM_005248567.1:c.819A>C	XP_005248624.1:p.Leu273Phe
XM_011543528.1:c.933A>C	XP_011541830.1:p.Leu311Phe
XM_011543529.1:c.933A>C	XP_011541831.1:p.Leu311Phe
NM_001363147.1:c.819A>C	NP_001350076.1:p.Leu273Phe
XM_011543529.2:c.933A>C	XP_011541831.1:p.Leu311Phe
XM_017009688.1:c.933A>C	XP_016865177.1:p.Leu311Phe
XR_001742172.1:n.973A>C
NM_022132.5:c.933A>C MANE Select	NP_071415.1:p.Leu311Phe