Canonical Allele Identifier: CA359987641

Gene: MCCC2

Linked Data

• dbSNP Id: rs1746874722
• gnomAD v4: 5-71635191-A-G
• MyVariant Identifiers: chr5:g.70931018A>G (hg19) ; chr5:g.71635191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635191A>G , CM000667.2:g.71635191A>G	GRCh38
NC_000005.9:g.70931018A>G , CM000667.1:g.70931018A>G	GRCh37
NC_000005.8:g.70966774A>G	NCBI36
NG_008882.1:g.52904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.900A>G
ENST00000505787.8:n.2784A>G
ENST00000509358.7:c.944A>G	ENSP00000420994.3:p.Asp315Gly
ENST00000509539.3:c.206A>G	ENSP00000425474.3:p.Asp69Gly
ENST00000510895.7:n.1067A>G
ENST00000629193.3:c.830A>G	ENSP00000486535.2:p.Asp277Gly
ENST00000681968.1:c.437A>G	ENSP00000508143.1:p.Asp146Gly
ENST00000682045.1:c.800A>G	ENSP00000507329.1:p.Asp267Gly
ENST00000682214.1:c.551A>G	ENSP00000507336.1:p.Asp184Gly
ENST00000682499.1:n.1765A>G
ENST00000682541.1:c.944A>G	ENSP00000507673.1:p.Asp315Gly
ENST00000682687.1:c.944A>G	ENSP00000507945.1:p.Asp315Gly
ENST00000682727.1:c.944A>G	ENSP00000507393.1:p.Asp315Gly
ENST00000682876.1:c.1073A>G	ENSP00000508389.1:p.Asp358Gly
ENST00000683098.1:c.803+3006A>G	ENSP00000507670.1:n.803+3006A>G
ENST00000683258.1:c.*665A>G	ENSP00000507448.1:n.*665A>G
ENST00000683339.1:c.728A>G	ENSP00000507758.1:p.Asp243Gly
ENST00000683403.1:c.854A>G	ENSP00000507896.1:p.Asp285Gly
ENST00000683429.1:c.551A>G	ENSP00000507697.1:p.Asp184Gly
ENST00000683665.1:c.944A>G	ENSP00000507068.1:p.Asp315Gly
ENST00000683789.1:c.830A>G	ENSP00000507012.1:p.Asp277Gly
ENST00000683847.1:n.788A>G
ENST00000683882.1:c.944A>G	ENSP00000506735.1:p.Asp315Gly
ENST00000684024.1:c.*615A>G	ENSP00000507175.1:n.*615A>G
ENST00000684254.1:c.*670A>G	ENSP00000508001.1:n.*670A>G
ENST00000684310.1:c.165+149A>G	ENSP00000507550.1:n.165+149A>G
ENST00000684530.1:c.206A>G	ENSP00000507439.1:p.Asp69Gly
ENST00000684652.1:n.1946A>G
ENST00000340941.11:c.944A>G MANE Select	ENSP00000343657.6:p.Asp315Gly
ENST00000340941.10:c.944A>G	ENSP00000343657.6:p.Asp315Gly
ENST00000505435.3:n.295A>G
ENST00000509358.6:c.944A>G	ENSP00000420994.2:p.Asp315Gly
ENST00000509539.2:c.269A>G	ENSP00000425474.2:p.Asp90Gly
ENST00000510895.6:n.558A>G
ENST00000512218.6:c.830A>G	ENSP00000423202.2:p.Asp277Gly
ENST00000629193.2:c.830A>G	ENSP00000486535.1:p.Asp277Gly
NM_022132.4:c.944A>G	NP_071415.1:p.Asp315Gly
XM_005248567.1:c.830A>G	XP_005248624.1:p.Asp277Gly
XM_011543528.1:c.944A>G	XP_011541830.1:p.Asp315Gly
XM_011543529.1:c.944A>G	XP_011541831.1:p.Asp315Gly
NM_001363147.1:c.830A>G	NP_001350076.1:p.Asp277Gly
XM_011543529.2:c.944A>G	XP_011541831.1:p.Asp315Gly
XM_017009688.1:c.944A>G	XP_016865177.1:p.Asp315Gly
XR_001742172.1:n.984A>G
NM_022132.5:c.944A>G MANE Select	NP_071415.1:p.Asp315Gly