Canonical Allele Identifier: CA359987635

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635190-G-A
• MyVariant Identifiers: chr5:g.70931017G>A (hg19) ; chr5:g.71635190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635190G>A , CM000667.2:g.71635190G>A	GRCh38
NC_000005.9:g.70931017G>A , CM000667.1:g.70931017G>A	GRCh37
NC_000005.8:g.70966773G>A	NCBI36
NG_008882.1:g.52903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.899G>A
ENST00000505787.8:n.2783G>A
ENST00000509358.7:c.943G>A	ENSP00000420994.3:p.Asp315Asn
ENST00000509539.3:c.205G>A	ENSP00000425474.3:p.Asp69Asn
ENST00000510895.7:n.1066G>A
ENST00000629193.3:c.829G>A	ENSP00000486535.2:p.Asp277Asn
ENST00000681968.1:c.436G>A	ENSP00000508143.1:p.Asp146Asn
ENST00000682045.1:c.799G>A	ENSP00000507329.1:p.Asp267Asn
ENST00000682214.1:c.550G>A	ENSP00000507336.1:p.Asp184Asn
ENST00000682499.1:n.1764G>A
ENST00000682541.1:c.943G>A	ENSP00000507673.1:p.Asp315Asn
ENST00000682687.1:c.943G>A	ENSP00000507945.1:p.Asp315Asn
ENST00000682727.1:c.943G>A	ENSP00000507393.1:p.Asp315Asn
ENST00000682876.1:c.1072G>A	ENSP00000508389.1:p.Asp358Asn
ENST00000683098.1:c.803+3005G>A	ENSP00000507670.1:n.803+3005G>A
ENST00000683258.1:c.*664G>A	ENSP00000507448.1:n.*664G>A
ENST00000683339.1:c.727G>A	ENSP00000507758.1:p.Asp243Asn
ENST00000683403.1:c.853G>A	ENSP00000507896.1:p.Asp285Asn
ENST00000683429.1:c.550G>A	ENSP00000507697.1:p.Asp184Asn
ENST00000683665.1:c.943G>A	ENSP00000507068.1:p.Asp315Asn
ENST00000683789.1:c.829G>A	ENSP00000507012.1:p.Asp277Asn
ENST00000683847.1:n.787G>A
ENST00000683882.1:c.943G>A	ENSP00000506735.1:p.Asp315Asn
ENST00000684024.1:c.*614G>A	ENSP00000507175.1:n.*614G>A
ENST00000684254.1:c.*669G>A	ENSP00000508001.1:n.*669G>A
ENST00000684310.1:c.165+148G>A	ENSP00000507550.1:n.165+148G>A
ENST00000684530.1:c.205G>A	ENSP00000507439.1:p.Asp69Asn
ENST00000684652.1:n.1945G>A
ENST00000340941.11:c.943G>A MANE Select	ENSP00000343657.6:p.Asp315Asn
ENST00000340941.10:c.943G>A	ENSP00000343657.6:p.Asp315Asn
ENST00000505435.3:n.294G>A
ENST00000509358.6:c.943G>A	ENSP00000420994.2:p.Asp315Asn
ENST00000509539.2:c.268G>A	ENSP00000425474.2:p.Asp90Asn
ENST00000510895.6:n.557G>A
ENST00000512218.6:c.829G>A	ENSP00000423202.2:p.Asp277Asn
ENST00000629193.2:c.829G>A	ENSP00000486535.1:p.Asp277Asn
NM_022132.4:c.943G>A	NP_071415.1:p.Asp315Asn
XM_005248567.1:c.829G>A	XP_005248624.1:p.Asp277Asn
XM_011543528.1:c.943G>A	XP_011541830.1:p.Asp315Asn
XM_011543529.1:c.943G>A	XP_011541831.1:p.Asp315Asn
NM_001363147.1:c.829G>A	NP_001350076.1:p.Asp277Asn
XM_011543529.2:c.943G>A	XP_011541831.1:p.Asp315Asn
XM_017009688.1:c.943G>A	XP_016865177.1:p.Asp315Asn
XR_001742172.1:n.983G>A
NM_022132.5:c.943G>A MANE Select	NP_071415.1:p.Asp315Asn