Canonical Allele Identifier: CA359986976

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930843A>C (hg19) ; chr5:g.71635016A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635016A>C , CM000667.2:g.71635016A>C	GRCh38
NC_000005.9:g.70930843A>C , CM000667.1:g.70930843A>C	GRCh37
NC_000005.8:g.70966599A>C	NCBI36
NG_008882.1:g.52729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.833A>C
ENST00000505787.8:n.2717A>C
ENST00000509358.7:c.877A>C	ENSP00000420994.3:p.Asn293His
ENST00000509539.3:c.139A>C	ENSP00000425474.3:p.Asn47His
ENST00000510895.7:n.1000A>C
ENST00000629193.3:c.763A>C	ENSP00000486535.2:p.Asn255His
ENST00000681968.1:c.370A>C	ENSP00000508143.1:p.Asn124His
ENST00000682045.1:c.733A>C	ENSP00000507329.1:p.Asn245His
ENST00000682214.1:c.484A>C	ENSP00000507336.1:p.Asn162His
ENST00000682499.1:n.1698A>C
ENST00000682541.1:c.877A>C	ENSP00000507673.1:p.Asn293His
ENST00000682687.1:c.877A>C	ENSP00000507945.1:p.Asn293His
ENST00000682727.1:c.877A>C	ENSP00000507393.1:p.Asn293His
ENST00000682876.1:c.1006A>C	ENSP00000508389.1:p.Asn336His
ENST00000683098.1:c.803+2831A>C	ENSP00000507670.1:n.803+2831A>C
ENST00000683258.1:c.*598A>C	ENSP00000507448.1:n.*598A>C
ENST00000683339.1:c.661A>C	ENSP00000507758.1:p.Asn221His
ENST00000683403.1:c.813+64A>C	ENSP00000507896.1:n.813+64A>C
ENST00000683429.1:c.484A>C	ENSP00000507697.1:p.Asn162His
ENST00000683665.1:c.877A>C	ENSP00000507068.1:p.Asn293His
ENST00000683789.1:c.763A>C	ENSP00000507012.1:p.Asn255His
ENST00000683847.1:n.721A>C
ENST00000683882.1:c.877A>C	ENSP00000506735.1:p.Asn293His
ENST00000684024.1:c.*548A>C	ENSP00000507175.1:n.*548A>C
ENST00000684254.1:c.*603A>C	ENSP00000508001.1:n.*603A>C
ENST00000684310.1:c.139A>C	ENSP00000507550.1:p.Asn47His
ENST00000684530.1:c.139A>C	ENSP00000507439.1:p.Asn47His
ENST00000684652.1:n.1879A>C
ENST00000340941.11:c.877A>C MANE Select	ENSP00000343657.6:p.Asn293His
ENST00000340941.10:c.877A>C	ENSP00000343657.6:p.Asn293His
ENST00000505435.3:n.228A>C
ENST00000505787.7:n.691A>C
ENST00000509358.6:c.877A>C	ENSP00000420994.2:p.Asn293His
ENST00000509539.2:c.202A>C	ENSP00000425474.2:p.Asn68His
ENST00000510895.6:n.491A>C
ENST00000512218.6:c.763A>C	ENSP00000423202.2:p.Asn255His
ENST00000629193.2:c.763A>C	ENSP00000486535.1:p.Asn255His
NM_022132.4:c.877A>C	NP_071415.1:p.Asn293His
XM_005248567.1:c.763A>C	XP_005248624.1:p.Asn255His
XM_011543528.1:c.877A>C	XP_011541830.1:p.Asn293His
XM_011543529.1:c.877A>C	XP_011541831.1:p.Asn293His
NM_001363147.1:c.763A>C	NP_001350076.1:p.Asn255His
XM_011543529.2:c.877A>C	XP_011541831.1:p.Asn293His
XM_017009688.1:c.877A>C	XP_016865177.1:p.Asn293His
XR_001742172.1:n.917A>C
NM_022132.5:c.877A>C MANE Select	NP_071415.1:p.Asn293His