Canonical Allele Identifier: CA359987846

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931065G>T (hg19) ; chr5:g.71635238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635238G>T , CM000667.2:g.71635238G>T	GRCh38
NC_000005.9:g.70931065G>T , CM000667.1:g.70931065G>T	GRCh37
NC_000005.8:g.70966821G>T	NCBI36
NG_008882.1:g.52951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.947G>T
ENST00000505787.8:n.2831G>T
ENST00000509358.7:c.991G>T	ENSP00000420994.3:p.Val331Phe
ENST00000509539.3:c.253G>T	ENSP00000425474.3:p.Val85Phe
ENST00000510895.7:n.1114G>T
ENST00000629193.3:c.877G>T	ENSP00000486535.2:p.Val293Phe
ENST00000681968.1:c.484G>T	ENSP00000508143.1:p.Val162Phe
ENST00000682045.1:c.847G>T	ENSP00000507329.1:p.Val283Phe
ENST00000682214.1:c.598G>T	ENSP00000507336.1:p.Val200Phe
ENST00000682499.1:n.1812G>T
ENST00000682541.1:c.991G>T	ENSP00000507673.1:p.Val331Phe
ENST00000682687.1:c.991G>T	ENSP00000507945.1:p.Val331Phe
ENST00000682727.1:c.991G>T	ENSP00000507393.1:p.Val331Phe
ENST00000682876.1:c.1120G>T	ENSP00000508389.1:p.Val374Phe
ENST00000683098.1:c.803+3053G>T	ENSP00000507670.1:n.803+3053G>T
ENST00000683258.1:c.*712G>T	ENSP00000507448.1:n.*712G>T
ENST00000683339.1:c.775G>T	ENSP00000507758.1:p.Val259Phe
ENST00000683403.1:c.901G>T	ENSP00000507896.1:p.Val301Phe
ENST00000683429.1:c.598G>T	ENSP00000507697.1:p.Val200Phe
ENST00000683665.1:c.991G>T	ENSP00000507068.1:p.Val331Phe
ENST00000683789.1:c.877G>T	ENSP00000507012.1:p.Val293Phe
ENST00000683847.1:n.835G>T
ENST00000683882.1:c.991G>T	ENSP00000506735.1:p.Val331Phe
ENST00000684024.1:c.*662G>T	ENSP00000507175.1:n.*662G>T
ENST00000684254.1:c.*717G>T	ENSP00000508001.1:n.*717G>T
ENST00000684310.1:c.165+196G>T	ENSP00000507550.1:n.165+196G>T
ENST00000684530.1:c.253G>T	ENSP00000507439.1:p.Val85Phe
ENST00000684652.1:n.1993G>T
ENST00000340941.11:c.991G>T MANE Select	ENSP00000343657.6:p.Val331Phe
ENST00000340941.10:c.991G>T	ENSP00000343657.6:p.Val331Phe
ENST00000505435.3:n.342G>T
ENST00000509358.6:c.991G>T	ENSP00000420994.2:p.Val331Phe
ENST00000509539.2:c.316G>T	ENSP00000425474.2:p.Val106Phe
ENST00000510895.6:n.605G>T
ENST00000512218.6:c.877G>T	ENSP00000423202.2:p.Val293Phe
ENST00000629193.2:c.877G>T	ENSP00000486535.1:p.Val293Phe
NM_022132.4:c.991G>T	NP_071415.1:p.Val331Phe
XM_005248567.1:c.877G>T	XP_005248624.1:p.Val293Phe
XM_011543528.1:c.991G>T	XP_011541830.1:p.Val331Phe
XM_011543529.1:c.991G>T	XP_011541831.1:p.Val331Phe
NM_001363147.1:c.877G>T	NP_001350076.1:p.Val293Phe
XM_011543529.2:c.991G>T	XP_011541831.1:p.Val331Phe
XM_017009688.1:c.991G>T	XP_016865177.1:p.Val331Phe
XR_001742172.1:n.1031G>T
NM_022132.5:c.991G>T MANE Select	NP_071415.1:p.Val331Phe