Canonical Allele Identifier: CA359986487

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930804G>C (hg19) ; chr5:g.71634977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634977G>C , CM000667.2:g.71634977G>C	GRCh38
NC_000005.9:g.70930804G>C , CM000667.1:g.70930804G>C	GRCh37
NC_000005.8:g.70966560G>C	NCBI36
NG_008882.1:g.52690G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.794G>C
ENST00000505787.8:n.2678G>C
ENST00000509358.7:c.838G>C	ENSP00000420994.3:p.Asp280His
ENST00000509539.3:c.100G>C	ENSP00000425474.3:p.Asp34His
ENST00000510895.7:n.961G>C
ENST00000629193.3:c.724G>C	ENSP00000486535.2:p.Asp242His
ENST00000681968.1:c.331G>C	ENSP00000508143.1:p.Asp111His
ENST00000682045.1:c.694G>C	ENSP00000507329.1:p.Asp232His
ENST00000682214.1:c.445G>C	ENSP00000507336.1:p.Asp149His
ENST00000682499.1:n.1659G>C
ENST00000682541.1:c.838G>C	ENSP00000507673.1:p.Asp280His
ENST00000682687.1:c.838G>C	ENSP00000507945.1:p.Asp280His
ENST00000682727.1:c.838G>C	ENSP00000507393.1:p.Asp280His
ENST00000682876.1:c.967G>C	ENSP00000508389.1:p.Asp323His
ENST00000683098.1:c.803+2792G>C	ENSP00000507670.1:n.803+2792G>C
ENST00000683258.1:c.*559G>C	ENSP00000507448.1:n.*559G>C
ENST00000683339.1:c.622G>C	ENSP00000507758.1:p.Asp208His
ENST00000683403.1:c.813+25G>C	ENSP00000507896.1:n.813+25G>C
ENST00000683429.1:c.445G>C	ENSP00000507697.1:p.Asp149His
ENST00000683665.1:c.838G>C	ENSP00000507068.1:p.Asp280His
ENST00000683789.1:c.724G>C	ENSP00000507012.1:p.Asp242His
ENST00000683847.1:n.682G>C
ENST00000683882.1:c.838G>C	ENSP00000506735.1:p.Asp280His
ENST00000684024.1:c.*509G>C	ENSP00000507175.1:n.*509G>C
ENST00000684254.1:c.*564G>C	ENSP00000508001.1:n.*564G>C
ENST00000684310.1:c.100G>C	ENSP00000507550.1:p.Asp34His
ENST00000684530.1:c.100G>C	ENSP00000507439.1:p.Asp34His
ENST00000684652.1:n.1840G>C
ENST00000340941.11:c.838G>C MANE Select	ENSP00000343657.6:p.Asp280His
ENST00000340941.10:c.838G>C	ENSP00000343657.6:p.Asp280His
ENST00000505435.3:n.189G>C
ENST00000505787.7:n.652G>C
ENST00000509358.6:c.838G>C	ENSP00000420994.2:p.Asp280His
ENST00000509539.2:c.163G>C	ENSP00000425474.2:p.Asp55His
ENST00000510895.6:n.452G>C
ENST00000512218.6:c.724G>C	ENSP00000423202.2:p.Asp242His
ENST00000629193.2:c.724G>C	ENSP00000486535.1:p.Asp242His
NM_022132.4:c.838G>C	NP_071415.1:p.Asp280His
XM_005248567.1:c.724G>C	XP_005248624.1:p.Asp242His
XM_011543528.1:c.838G>C	XP_011541830.1:p.Asp280His
XM_011543529.1:c.838G>C	XP_011541831.1:p.Asp280His
NM_001363147.1:c.724G>C	NP_001350076.1:p.Asp242His
XM_011543529.2:c.838G>C	XP_011541831.1:p.Asp280His
XM_017009688.1:c.838G>C	XP_016865177.1:p.Asp280His
XR_001742172.1:n.878G>C
NM_022132.5:c.838G>C MANE Select	NP_071415.1:p.Asp280His