Canonical Allele Identifier: CA359987662

Gene: MCCC2

Linked Data

• dbSNP Id: rs1456800952
• gnomAD v2: 5-70931022-A-C
• gnomAD v4: 5-71635195-A-C
• MyVariant Identifiers: chr5:g.70931022A>C (hg19) ; chr5:g.71635195A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635195A>C , CM000667.2:g.71635195A>C	GRCh38
NC_000005.9:g.70931022A>C , CM000667.1:g.70931022A>C	GRCh37
NC_000005.8:g.70966778A>C	NCBI36
NG_008882.1:g.52908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.904A>C
ENST00000505787.8:n.2788A>C
ENST00000509358.7:c.948A>C	ENSP00000420994.3:p.Glu316Asp
ENST00000509539.3:c.210A>C	ENSP00000425474.3:p.Glu70Asp
ENST00000510895.7:n.1071A>C
ENST00000629193.3:c.834A>C	ENSP00000486535.2:p.Glu278Asp
ENST00000681968.1:c.441A>C	ENSP00000508143.1:p.Glu147Asp
ENST00000682045.1:c.804A>C	ENSP00000507329.1:p.Glu268Asp
ENST00000682214.1:c.555A>C	ENSP00000507336.1:p.Glu185Asp
ENST00000682499.1:n.1769A>C
ENST00000682541.1:c.948A>C	ENSP00000507673.1:p.Glu316Asp
ENST00000682687.1:c.948A>C	ENSP00000507945.1:p.Glu316Asp
ENST00000682727.1:c.948A>C	ENSP00000507393.1:p.Glu316Asp
ENST00000682876.1:c.1077A>C	ENSP00000508389.1:p.Glu359Asp
ENST00000683098.1:c.803+3010A>C	ENSP00000507670.1:n.803+3010A>C
ENST00000683258.1:c.*669A>C	ENSP00000507448.1:n.*669A>C
ENST00000683339.1:c.732A>C	ENSP00000507758.1:p.Glu244Asp
ENST00000683403.1:c.858A>C	ENSP00000507896.1:p.Glu286Asp
ENST00000683429.1:c.555A>C	ENSP00000507697.1:p.Glu185Asp
ENST00000683665.1:c.948A>C	ENSP00000507068.1:p.Glu316Asp
ENST00000683789.1:c.834A>C	ENSP00000507012.1:p.Glu278Asp
ENST00000683847.1:n.792A>C
ENST00000683882.1:c.948A>C	ENSP00000506735.1:p.Glu316Asp
ENST00000684024.1:c.*619A>C	ENSP00000507175.1:n.*619A>C
ENST00000684254.1:c.*674A>C	ENSP00000508001.1:n.*674A>C
ENST00000684310.1:c.165+153A>C	ENSP00000507550.1:n.165+153A>C
ENST00000684530.1:c.210A>C	ENSP00000507439.1:p.Glu70Asp
ENST00000684652.1:n.1950A>C
ENST00000340941.11:c.948A>C MANE Select	ENSP00000343657.6:p.Glu316Asp
ENST00000340941.10:c.948A>C	ENSP00000343657.6:p.Glu316Asp
ENST00000505435.3:n.299A>C
ENST00000509358.6:c.948A>C	ENSP00000420994.2:p.Glu316Asp
ENST00000509539.2:c.273A>C	ENSP00000425474.2:p.Glu91Asp
ENST00000510895.6:n.562A>C
ENST00000512218.6:c.834A>C	ENSP00000423202.2:p.Glu278Asp
ENST00000629193.2:c.834A>C	ENSP00000486535.1:p.Glu278Asp
NM_022132.4:c.948A>C	NP_071415.1:p.Glu316Asp
XM_005248567.1:c.834A>C	XP_005248624.1:p.Glu278Asp
XM_011543528.1:c.948A>C	XP_011541830.1:p.Glu316Asp
XM_011543529.1:c.948A>C	XP_011541831.1:p.Glu316Asp
NM_001363147.1:c.834A>C	NP_001350076.1:p.Glu278Asp
XM_011543529.2:c.948A>C	XP_011541831.1:p.Glu316Asp
XM_017009688.1:c.948A>C	XP_016865177.1:p.Glu316Asp
XR_001742172.1:n.988A>C
NM_022132.5:c.948A>C MANE Select	NP_071415.1:p.Glu316Asp