Canonical Allele Identifier: CA359986641

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930816C>A (hg19) ; chr5:g.71634989C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634989C>A , CM000667.2:g.71634989C>A	GRCh38
NC_000005.9:g.70930816C>A , CM000667.1:g.70930816C>A	GRCh37
NC_000005.8:g.70966572C>A	NCBI36
NG_008882.1:g.52702C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.806C>A
ENST00000505787.8:n.2690C>A
ENST00000509358.7:c.850C>A	ENSP00000420994.3:p.Leu284Ile
ENST00000509539.3:c.112C>A	ENSP00000425474.3:p.Leu38Ile
ENST00000510895.7:n.973C>A
ENST00000629193.3:c.736C>A	ENSP00000486535.2:p.Leu246Ile
ENST00000681968.1:c.343C>A	ENSP00000508143.1:p.Leu115Ile
ENST00000682045.1:c.706C>A	ENSP00000507329.1:p.Leu236Ile
ENST00000682214.1:c.457C>A	ENSP00000507336.1:p.Leu153Ile
ENST00000682499.1:n.1671C>A
ENST00000682541.1:c.850C>A	ENSP00000507673.1:p.Leu284Ile
ENST00000682687.1:c.850C>A	ENSP00000507945.1:p.Leu284Ile
ENST00000682727.1:c.850C>A	ENSP00000507393.1:p.Leu284Ile
ENST00000682876.1:c.979C>A	ENSP00000508389.1:p.Leu327Ile
ENST00000683098.1:c.803+2804C>A	ENSP00000507670.1:n.803+2804C>A
ENST00000683258.1:c.*571C>A	ENSP00000507448.1:n.*571C>A
ENST00000683339.1:c.634C>A	ENSP00000507758.1:p.Leu212Ile
ENST00000683403.1:c.813+37C>A	ENSP00000507896.1:n.813+37C>A
ENST00000683429.1:c.457C>A	ENSP00000507697.1:p.Leu153Ile
ENST00000683665.1:c.850C>A	ENSP00000507068.1:p.Leu284Ile
ENST00000683789.1:c.736C>A	ENSP00000507012.1:p.Leu246Ile
ENST00000683847.1:n.694C>A
ENST00000683882.1:c.850C>A	ENSP00000506735.1:p.Leu284Ile
ENST00000684024.1:c.*521C>A	ENSP00000507175.1:n.*521C>A
ENST00000684254.1:c.*576C>A	ENSP00000508001.1:n.*576C>A
ENST00000684310.1:c.112C>A	ENSP00000507550.1:p.Leu38Ile
ENST00000684530.1:c.112C>A	ENSP00000507439.1:p.Leu38Ile
ENST00000684652.1:n.1852C>A
ENST00000340941.11:c.850C>A MANE Select	ENSP00000343657.6:p.Leu284Ile
ENST00000340941.10:c.850C>A	ENSP00000343657.6:p.Leu284Ile
ENST00000505435.3:n.201C>A
ENST00000505787.7:n.664C>A
ENST00000509358.6:c.850C>A	ENSP00000420994.2:p.Leu284Ile
ENST00000509539.2:c.175C>A	ENSP00000425474.2:p.Leu59Ile
ENST00000510895.6:n.464C>A
ENST00000512218.6:c.736C>A	ENSP00000423202.2:p.Leu246Ile
ENST00000629193.2:c.736C>A	ENSP00000486535.1:p.Leu246Ile
NM_022132.4:c.850C>A	NP_071415.1:p.Leu284Ile
XM_005248567.1:c.736C>A	XP_005248624.1:p.Leu246Ile
XM_011543528.1:c.850C>A	XP_011541830.1:p.Leu284Ile
XM_011543529.1:c.850C>A	XP_011541831.1:p.Leu284Ile
NM_001363147.1:c.736C>A	NP_001350076.1:p.Leu246Ile
XM_011543529.2:c.850C>A	XP_011541831.1:p.Leu284Ile
XM_017009688.1:c.850C>A	XP_016865177.1:p.Leu284Ile
XR_001742172.1:n.890C>A
NM_022132.5:c.850C>A MANE Select	NP_071415.1:p.Leu284Ile