Canonical Allele Identifier: CA359987712

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931036T>A (hg19) ; chr5:g.71635209T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635209T>A , CM000667.2:g.71635209T>A	GRCh38
NC_000005.9:g.70931036T>A , CM000667.1:g.70931036T>A	GRCh37
NC_000005.8:g.70966792T>A	NCBI36
NG_008882.1:g.52922T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.918T>A
ENST00000505787.8:n.2802T>A
ENST00000509358.7:c.962T>A	ENSP00000420994.3:p.Val321Asp
ENST00000509539.3:c.224T>A	ENSP00000425474.3:p.Val75Asp
ENST00000510895.7:n.1085T>A
ENST00000629193.3:c.848T>A	ENSP00000486535.2:p.Val283Asp
ENST00000681968.1:c.455T>A	ENSP00000508143.1:p.Val152Asp
ENST00000682045.1:c.818T>A	ENSP00000507329.1:p.Val273Asp
ENST00000682214.1:c.569T>A	ENSP00000507336.1:p.Val190Asp
ENST00000682499.1:n.1783T>A
ENST00000682541.1:c.962T>A	ENSP00000507673.1:p.Val321Asp
ENST00000682687.1:c.962T>A	ENSP00000507945.1:p.Val321Asp
ENST00000682727.1:c.962T>A	ENSP00000507393.1:p.Val321Asp
ENST00000682876.1:c.1091T>A	ENSP00000508389.1:p.Val364Asp
ENST00000683098.1:c.803+3024T>A	ENSP00000507670.1:n.803+3024T>A
ENST00000683258.1:c.*683T>A	ENSP00000507448.1:n.*683T>A
ENST00000683339.1:c.746T>A	ENSP00000507758.1:p.Val249Asp
ENST00000683403.1:c.872T>A	ENSP00000507896.1:p.Val291Asp
ENST00000683429.1:c.569T>A	ENSP00000507697.1:p.Val190Asp
ENST00000683665.1:c.962T>A	ENSP00000507068.1:p.Val321Asp
ENST00000683789.1:c.848T>A	ENSP00000507012.1:p.Val283Asp
ENST00000683847.1:n.806T>A
ENST00000683882.1:c.962T>A	ENSP00000506735.1:p.Val321Asp
ENST00000684024.1:c.*633T>A	ENSP00000507175.1:n.*633T>A
ENST00000684254.1:c.*688T>A	ENSP00000508001.1:n.*688T>A
ENST00000684310.1:c.165+167T>A	ENSP00000507550.1:n.165+167T>A
ENST00000684530.1:c.224T>A	ENSP00000507439.1:p.Val75Asp
ENST00000684652.1:n.1964T>A
ENST00000340941.11:c.962T>A MANE Select	ENSP00000343657.6:p.Val321Asp
ENST00000340941.10:c.962T>A	ENSP00000343657.6:p.Val321Asp
ENST00000505435.3:n.313T>A
ENST00000509358.6:c.962T>A	ENSP00000420994.2:p.Val321Asp
ENST00000509539.2:c.287T>A	ENSP00000425474.2:p.Val96Asp
ENST00000510895.6:n.576T>A
ENST00000512218.6:c.848T>A	ENSP00000423202.2:p.Val283Asp
ENST00000629193.2:c.848T>A	ENSP00000486535.1:p.Val283Asp
NM_022132.4:c.962T>A	NP_071415.1:p.Val321Asp
XM_005248567.1:c.848T>A	XP_005248624.1:p.Val283Asp
XM_011543528.1:c.962T>A	XP_011541830.1:p.Val321Asp
XM_011543529.1:c.962T>A	XP_011541831.1:p.Val321Asp
NM_001363147.1:c.848T>A	NP_001350076.1:p.Val283Asp
XM_011543529.2:c.962T>A	XP_011541831.1:p.Val321Asp
XM_017009688.1:c.962T>A	XP_016865177.1:p.Val321Asp
XR_001742172.1:n.1002T>A
NM_022132.5:c.962T>A MANE Select	NP_071415.1:p.Val321Asp