Canonical Allele Identifier: CA359986777

Gene: MCCC2

Linked Data

• dbSNP Id: rs1476907400
• gnomAD v2: 5-70930826-C-T
• gnomAD v3: 5-71634999-C-T
• gnomAD v4: 5-71634999-C-T
• MyVariant Identifiers: chr5:g.70930826C>T (hg19) ; chr5:g.71634999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634999C>T , CM000667.2:g.71634999C>T	GRCh38
NC_000005.9:g.70930826C>T , CM000667.1:g.70930826C>T	GRCh37
NC_000005.8:g.70966582C>T	NCBI36
NG_008882.1:g.52712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.816C>T
ENST00000505787.8:n.2700C>T
ENST00000509358.7:c.860C>T	ENSP00000420994.3:p.Thr287Ile
ENST00000509539.3:c.122C>T	ENSP00000425474.3:p.Thr41Ile
ENST00000510895.7:n.983C>T
ENST00000629193.3:c.746C>T	ENSP00000486535.2:p.Thr249Ile
ENST00000681968.1:c.353C>T	ENSP00000508143.1:p.Thr118Ile
ENST00000682045.1:c.716C>T	ENSP00000507329.1:p.Thr239Ile
ENST00000682214.1:c.467C>T	ENSP00000507336.1:p.Thr156Ile
ENST00000682499.1:n.1681C>T
ENST00000682541.1:c.860C>T	ENSP00000507673.1:p.Thr287Ile
ENST00000682687.1:c.860C>T	ENSP00000507945.1:p.Thr287Ile
ENST00000682727.1:c.860C>T	ENSP00000507393.1:p.Thr287Ile
ENST00000682876.1:c.989C>T	ENSP00000508389.1:p.Thr330Ile
ENST00000683098.1:c.803+2814C>T	ENSP00000507670.1:n.803+2814C>T
ENST00000683258.1:c.*581C>T	ENSP00000507448.1:n.*581C>T
ENST00000683339.1:c.644C>T	ENSP00000507758.1:p.Thr215Ile
ENST00000683403.1:c.813+47C>T	ENSP00000507896.1:n.813+47C>T
ENST00000683429.1:c.467C>T	ENSP00000507697.1:p.Thr156Ile
ENST00000683665.1:c.860C>T	ENSP00000507068.1:p.Thr287Ile
ENST00000683789.1:c.746C>T	ENSP00000507012.1:p.Thr249Ile
ENST00000683847.1:n.704C>T
ENST00000683882.1:c.860C>T	ENSP00000506735.1:p.Thr287Ile
ENST00000684024.1:c.*531C>T	ENSP00000507175.1:n.*531C>T
ENST00000684254.1:c.*586C>T	ENSP00000508001.1:n.*586C>T
ENST00000684310.1:c.122C>T	ENSP00000507550.1:p.Thr41Ile
ENST00000684530.1:c.122C>T	ENSP00000507439.1:p.Thr41Ile
ENST00000684652.1:n.1862C>T
ENST00000340941.11:c.860C>T MANE Select	ENSP00000343657.6:p.Thr287Ile
ENST00000340941.10:c.860C>T	ENSP00000343657.6:p.Thr287Ile
ENST00000505435.3:n.211C>T
ENST00000505787.7:n.674C>T
ENST00000509358.6:c.860C>T	ENSP00000420994.2:p.Thr287Ile
ENST00000509539.2:c.185C>T	ENSP00000425474.2:p.Thr62Ile
ENST00000510895.6:n.474C>T
ENST00000512218.6:c.746C>T	ENSP00000423202.2:p.Thr249Ile
ENST00000629193.2:c.746C>T	ENSP00000486535.1:p.Thr249Ile
NM_022132.4:c.860C>T	NP_071415.1:p.Thr287Ile
XM_005248567.1:c.746C>T	XP_005248624.1:p.Thr249Ile
XM_011543528.1:c.860C>T	XP_011541830.1:p.Thr287Ile
XM_011543529.1:c.860C>T	XP_011541831.1:p.Thr287Ile
NM_001363147.1:c.746C>T	NP_001350076.1:p.Thr249Ile
XM_011543529.2:c.860C>T	XP_011541831.1:p.Thr287Ile
XM_017009688.1:c.860C>T	XP_016865177.1:p.Thr287Ile
XR_001742172.1:n.900C>T
NM_022132.5:c.860C>T MANE Select	NP_071415.1:p.Thr287Ile