Canonical Allele Identifier: CA359986882

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930835T>A (hg19) ; chr5:g.71635008T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635008T>A , CM000667.2:g.71635008T>A	GRCh38
NC_000005.9:g.70930835T>A , CM000667.1:g.70930835T>A	GRCh37
NC_000005.8:g.70966591T>A	NCBI36
NG_008882.1:g.52721T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.825T>A
ENST00000505787.8:n.2709T>A
ENST00000509358.7:c.869T>A	ENSP00000420994.3:p.Val290Asp
ENST00000509539.3:c.131T>A	ENSP00000425474.3:p.Val44Asp
ENST00000510895.7:n.992T>A
ENST00000629193.3:c.755T>A	ENSP00000486535.2:p.Val252Asp
ENST00000681968.1:c.362T>A	ENSP00000508143.1:p.Val121Asp
ENST00000682045.1:c.725T>A	ENSP00000507329.1:p.Val242Asp
ENST00000682214.1:c.476T>A	ENSP00000507336.1:p.Val159Asp
ENST00000682499.1:n.1690T>A
ENST00000682541.1:c.869T>A	ENSP00000507673.1:p.Val290Asp
ENST00000682687.1:c.869T>A	ENSP00000507945.1:p.Val290Asp
ENST00000682727.1:c.869T>A	ENSP00000507393.1:p.Val290Asp
ENST00000682876.1:c.998T>A	ENSP00000508389.1:p.Val333Asp
ENST00000683098.1:c.803+2823T>A	ENSP00000507670.1:n.803+2823T>A
ENST00000683258.1:c.*590T>A	ENSP00000507448.1:n.*590T>A
ENST00000683339.1:c.653T>A	ENSP00000507758.1:p.Val218Asp
ENST00000683403.1:c.813+56T>A	ENSP00000507896.1:n.813+56T>A
ENST00000683429.1:c.476T>A	ENSP00000507697.1:p.Val159Asp
ENST00000683665.1:c.869T>A	ENSP00000507068.1:p.Val290Asp
ENST00000683789.1:c.755T>A	ENSP00000507012.1:p.Val252Asp
ENST00000683847.1:n.713T>A
ENST00000683882.1:c.869T>A	ENSP00000506735.1:p.Val290Asp
ENST00000684024.1:c.*540T>A	ENSP00000507175.1:n.*540T>A
ENST00000684254.1:c.*595T>A	ENSP00000508001.1:n.*595T>A
ENST00000684310.1:c.131T>A	ENSP00000507550.1:p.Val44Asp
ENST00000684530.1:c.131T>A	ENSP00000507439.1:p.Val44Asp
ENST00000684652.1:n.1871T>A
ENST00000340941.11:c.869T>A MANE Select	ENSP00000343657.6:p.Val290Asp
ENST00000340941.10:c.869T>A	ENSP00000343657.6:p.Val290Asp
ENST00000505435.3:n.220T>A
ENST00000505787.7:n.683T>A
ENST00000509358.6:c.869T>A	ENSP00000420994.2:p.Val290Asp
ENST00000509539.2:c.194T>A	ENSP00000425474.2:p.Val65Asp
ENST00000510895.6:n.483T>A
ENST00000512218.6:c.755T>A	ENSP00000423202.2:p.Val252Asp
ENST00000629193.2:c.755T>A	ENSP00000486535.1:p.Val252Asp
NM_022132.4:c.869T>A	NP_071415.1:p.Val290Asp
XM_005248567.1:c.755T>A	XP_005248624.1:p.Val252Asp
XM_011543528.1:c.869T>A	XP_011541830.1:p.Val290Asp
XM_011543529.1:c.869T>A	XP_011541831.1:p.Val290Asp
NM_001363147.1:c.755T>A	NP_001350076.1:p.Val252Asp
XM_011543529.2:c.869T>A	XP_011541831.1:p.Val290Asp
XM_017009688.1:c.869T>A	XP_016865177.1:p.Val290Asp
XR_001742172.1:n.909T>A
NM_022132.5:c.869T>A MANE Select	NP_071415.1:p.Val290Asp