Canonical Allele Identifier: CA359986645

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930817T>A (hg19) ; chr5:g.71634990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634990T>A , CM000667.2:g.71634990T>A	GRCh38
NC_000005.9:g.70930817T>A , CM000667.1:g.70930817T>A	GRCh37
NC_000005.8:g.70966573T>A	NCBI36
NG_008882.1:g.52703T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.807T>A
ENST00000505787.8:n.2691T>A
ENST00000509358.7:c.851T>A	ENSP00000420994.3:p.Leu284His
ENST00000509539.3:c.113T>A	ENSP00000425474.3:p.Leu38His
ENST00000510895.7:n.974T>A
ENST00000629193.3:c.737T>A	ENSP00000486535.2:p.Leu246His
ENST00000681968.1:c.344T>A	ENSP00000508143.1:p.Leu115His
ENST00000682045.1:c.707T>A	ENSP00000507329.1:p.Leu236His
ENST00000682214.1:c.458T>A	ENSP00000507336.1:p.Leu153His
ENST00000682499.1:n.1672T>A
ENST00000682541.1:c.851T>A	ENSP00000507673.1:p.Leu284His
ENST00000682687.1:c.851T>A	ENSP00000507945.1:p.Leu284His
ENST00000682727.1:c.851T>A	ENSP00000507393.1:p.Leu284His
ENST00000682876.1:c.980T>A	ENSP00000508389.1:p.Leu327His
ENST00000683098.1:c.803+2805T>A	ENSP00000507670.1:n.803+2805T>A
ENST00000683258.1:c.*572T>A	ENSP00000507448.1:n.*572T>A
ENST00000683339.1:c.635T>A	ENSP00000507758.1:p.Leu212His
ENST00000683403.1:c.813+38T>A	ENSP00000507896.1:n.813+38T>A
ENST00000683429.1:c.458T>A	ENSP00000507697.1:p.Leu153His
ENST00000683665.1:c.851T>A	ENSP00000507068.1:p.Leu284His
ENST00000683789.1:c.737T>A	ENSP00000507012.1:p.Leu246His
ENST00000683847.1:n.695T>A
ENST00000683882.1:c.851T>A	ENSP00000506735.1:p.Leu284His
ENST00000684024.1:c.*522T>A	ENSP00000507175.1:n.*522T>A
ENST00000684254.1:c.*577T>A	ENSP00000508001.1:n.*577T>A
ENST00000684310.1:c.113T>A	ENSP00000507550.1:p.Leu38His
ENST00000684530.1:c.113T>A	ENSP00000507439.1:p.Leu38His
ENST00000684652.1:n.1853T>A
ENST00000340941.11:c.851T>A MANE Select	ENSP00000343657.6:p.Leu284His
ENST00000340941.10:c.851T>A	ENSP00000343657.6:p.Leu284His
ENST00000505435.3:n.202T>A
ENST00000505787.7:n.665T>A
ENST00000509358.6:c.851T>A	ENSP00000420994.2:p.Leu284His
ENST00000509539.2:c.176T>A	ENSP00000425474.2:p.Leu59His
ENST00000510895.6:n.465T>A
ENST00000512218.6:c.737T>A	ENSP00000423202.2:p.Leu246His
ENST00000629193.2:c.737T>A	ENSP00000486535.1:p.Leu246His
NM_022132.4:c.851T>A	NP_071415.1:p.Leu284His
XM_005248567.1:c.737T>A	XP_005248624.1:p.Leu246His
XM_011543528.1:c.851T>A	XP_011541830.1:p.Leu284His
XM_011543529.1:c.851T>A	XP_011541831.1:p.Leu284His
NM_001363147.1:c.737T>A	NP_001350076.1:p.Leu246His
XM_011543529.2:c.851T>A	XP_011541831.1:p.Leu284His
XM_017009688.1:c.851T>A	XP_016865177.1:p.Leu284His
XR_001742172.1:n.891T>A
NM_022132.5:c.851T>A MANE Select	NP_071415.1:p.Leu284His