Canonical Allele Identifier: CA360010845

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71602595-A-C
• MyVariant Identifiers: chr5:g.70898422A>C (hg19) ; chr5:g.71602595A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602595A>C , CM000667.2:g.71602595A>C	GRCh38
NC_000005.9:g.70898422A>C , CM000667.1:g.70898422A>C	GRCh37
NC_000005.8:g.70934178A>C	NCBI36
NG_008882.1:g.20308A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.543A>C
ENST00000505787.8:n.2313A>C
ENST00000509358.7:c.473A>C	ENSP00000420994.3:p.Glu158Ala
ENST00000510895.7:n.596A>C
ENST00000629193.3:c.473A>C	ENSP00000486535.2:p.Glu158Ala
ENST00000681968.1:c.80A>C	ENSP00000508143.1:p.Glu27Ala
ENST00000682045.1:c.329A>C	ENSP00000507329.1:p.Glu110Ala
ENST00000682214.1:c.80A>C	ENSP00000507336.1:p.Glu27Ala
ENST00000682499.1:n.1294A>C
ENST00000682541.1:c.473A>C	ENSP00000507673.1:p.Glu158Ala
ENST00000682687.1:c.473A>C	ENSP00000507945.1:p.Glu158Ala
ENST00000682727.1:c.473A>C	ENSP00000507393.1:p.Glu158Ala
ENST00000682876.1:c.473A>C	ENSP00000508389.1:p.Glu158Ala
ENST00000683098.1:c.473A>C	ENSP00000507670.1:p.Glu158Ala
ENST00000683258.1:c.*194A>C	ENSP00000507448.1:n.*194A>C
ENST00000683339.1:c.371A>C	ENSP00000507758.1:p.Glu124Ala
ENST00000683403.1:c.473A>C	ENSP00000507896.1:p.Glu158Ala
ENST00000683429.1:c.80A>C	ENSP00000507697.1:p.Glu27Ala
ENST00000683665.1:c.473A>C	ENSP00000507068.1:p.Glu158Ala
ENST00000683789.1:c.473A>C	ENSP00000507012.1:p.Glu158Ala
ENST00000683882.1:c.473A>C	ENSP00000506735.1:p.Glu158Ala
ENST00000684024.1:c.*144A>C	ENSP00000507175.1:n.*144A>C
ENST00000684254.1:c.*199A>C	ENSP00000508001.1:n.*199A>C
ENST00000340941.11:c.473A>C MANE Select	ENSP00000343657.6:p.Glu158Ala
ENST00000340941.10:c.473A>C	ENSP00000343657.6:p.Glu158Ala
ENST00000505787.7:n.287A>C
ENST00000507169.5:n.399A>C
ENST00000509358.6:c.473A>C	ENSP00000420994.2:p.Glu158Ala
ENST00000510895.6:n.87A>C
ENST00000512218.6:c.473A>C	ENSP00000423202.2:p.Glu158Ala
ENST00000629193.2:c.473A>C	ENSP00000486535.1:p.Glu158Ala
NM_022132.4:c.473A>C	NP_071415.1:p.Glu158Ala
XM_005248567.1:c.473A>C	XP_005248624.1:p.Glu158Ala
XM_011543528.1:c.473A>C	XP_011541830.1:p.Glu158Ala
XM_011543529.1:c.473A>C	XP_011541831.1:p.Glu158Ala
NM_001363147.1:c.473A>C	NP_001350076.1:p.Glu158Ala
XM_011543529.2:c.473A>C	XP_011541831.1:p.Glu158Ala
XM_017009688.1:c.473A>C	XP_016865177.1:p.Glu158Ala
XR_001742172.1:n.513A>C
NM_022132.5:c.473A>C MANE Select	NP_071415.1:p.Glu158Ala