Canonical Allele Identifier: CA3297768

Gene: MCCC2

Linked Data

• dbSNP Id: rs370714351
• ExAC: 5:70898337 G / A
• gnomAD v3: 5-71602510-G-A
• gnomAD v4: 5-71602510-G-A
• MyVariant Identifiers: chr5:g.70898337G>A (hg19) ; chr5:g.71602510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602510G>A , CM000667.2:g.71602510G>A	GRCh38
NC_000005.9:g.70898337G>A , CM000667.1:g.70898337G>A	GRCh37
NC_000005.8:g.70934093G>A	NCBI36
NG_008882.1:g.20223G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.458G>A
ENST00000505787.8:n.2228G>A
ENST00000509358.7:c.388G>A	ENSP00000420994.3:p.Glu130Lys
ENST00000510895.7:n.511G>A
ENST00000629193.3:c.388G>A	ENSP00000486535.2:p.Glu130Lys
ENST00000681968.1:c.-6G>A	ENSP00000508143.1:n.-6G>A
ENST00000682045.1:c.244G>A	ENSP00000507329.1:p.Glu82Lys
ENST00000682214.1:c.-6G>A	ENSP00000507336.1:n.-6G>A
ENST00000682499.1:n.1209G>A
ENST00000682541.1:c.388G>A	ENSP00000507673.1:p.Glu130Lys
ENST00000682687.1:c.388G>A	ENSP00000507945.1:p.Glu130Lys
ENST00000682727.1:c.388G>A	ENSP00000507393.1:p.Glu130Lys
ENST00000682876.1:c.388G>A	ENSP00000508389.1:p.Glu130Lys
ENST00000683098.1:c.388G>A	ENSP00000507670.1:p.Glu130Lys
ENST00000683258.1:c.*110-1G>A	ENSP00000507448.1:n.*110-1G>A
ENST00000683339.1:c.286G>A	ENSP00000507758.1:p.Glu96Lys
ENST00000683403.1:c.388G>A	ENSP00000507896.1:p.Glu130Lys
ENST00000683429.1:c.-6G>A	ENSP00000507697.1:n.-6G>A
ENST00000683665.1:c.388G>A	ENSP00000507068.1:p.Glu130Lys
ENST00000683789.1:c.388G>A	ENSP00000507012.1:p.Glu130Lys
ENST00000683882.1:c.388G>A	ENSP00000506735.1:p.Glu130Lys
ENST00000684024.1:c.*59G>A	ENSP00000507175.1:n.*59G>A
ENST00000684254.1:c.*114G>A	ENSP00000508001.1:n.*114G>A
ENST00000340941.11:c.388G>A MANE Select	ENSP00000343657.6:p.Glu130Lys
ENST00000340941.10:c.388G>A	ENSP00000343657.6:p.Glu130Lys
ENST00000505787.7:n.202G>A
ENST00000507169.5:n.314G>A
ENST00000509358.6:c.388G>A	ENSP00000420994.2:p.Glu130Lys
ENST00000510895.6:n.2G>A
ENST00000512218.6:c.388G>A	ENSP00000423202.2:p.Glu130Lys
ENST00000629193.2:c.388G>A	ENSP00000486535.1:p.Glu130Lys
NM_022132.4:c.388G>A	NP_071415.1:p.Glu130Lys
XM_005248567.1:c.388G>A	XP_005248624.1:p.Glu130Lys
XM_011543528.1:c.388G>A	XP_011541830.1:p.Glu130Lys
XM_011543529.1:c.388G>A	XP_011541831.1:p.Glu130Lys
NM_001363147.1:c.388G>A	NP_001350076.1:p.Glu130Lys
XM_011543529.2:c.388G>A	XP_011541831.1:p.Glu130Lys
XM_017009688.1:c.388G>A	XP_016865177.1:p.Glu130Lys
XR_001742172.1:n.428G>A
NM_022132.5:c.388G>A MANE Select	NP_071415.1:p.Glu130Lys