Canonical Allele Identifier: CA347484981

Gene: GGCX

Linked Data

• dbSNP Id: rs146758153
• MyVariant Identifiers: chr2:g.85779054T>A (hg19) ; chr2:g.85551931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551931T>A , CM000664.2:g.85551931T>A	GRCh38
NC_000002.11:g.85779054T>A , CM000664.1:g.85779054T>A	GRCh37
NC_000002.10:g.85632565T>A	NCBI36
NG_011811.2:g.14604A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5968A>T
ENST00000482662.2:n.4375A>T
ENST00000685865.1:n.2327A>T
ENST00000687250.1:n.2027A>T
ENST00000687995.1:n.1842A>T
ENST00000688205.1:c.*1083A>T	ENSP00000509673.1:n.*1083A>T
ENST00000688788.1:n.1729A>T
ENST00000689276.1:c.1421A>T	ENSP00000510012.1:p.Gln474Leu
ENST00000689576.1:c.*109A>T	ENSP00000508712.1:n.*109A>T
ENST00000690108.1:c.*1146A>T	ENSP00000510617.1:n.*1146A>T
ENST00000690468.1:c.*42A>T	ENSP00000509078.1:n.*42A>T
ENST00000690595.1:c.815A>T	ENSP00000508979.1:p.Gln272Leu
ENST00000691348.1:c.*42A>T	ENSP00000509369.1:n.*42A>T
ENST00000691410.1:c.*1067A>T	ENSP00000508479.1:n.*1067A>T
ENST00000693287.1:c.806A>T	ENSP00000510264.1:p.Gln269Leu
ENST00000693681.1:c.803A>T	ENSP00000510789.1:p.Gln268Leu
ENST00000233838.9:c.1490A>T MANE Select	ENSP00000233838.3:p.Gln497Leu
ENST00000233838.8:c.1490A>T	ENSP00000233838.3:p.Gln497Leu
ENST00000430215.7:c.1319A>T	ENSP00000408045.3:p.Gln440Leu
ENST00000465637.5:n.179-3927A>T
NM_000821.5:c.1490A>T	NP_000812.2:p.Gln497Leu
NM_000821.6:c.1490A>T	NP_000812.2:p.Gln497Leu
NM_001142269.2:c.1319A>T	NP_001135741.1:p.Gln440Leu
NM_001142269.3:c.1319A>T	NP_001135741.1:p.Gln440Leu
XM_005264259.3:c.1490A>T	XP_005264316.1:p.Gln497Leu
XM_011532764.1:c.668A>T	XP_011531066.1:p.Gln223Leu
XM_011532765.1:c.668A>T	XP_011531067.1:p.Gln223Leu
XR_939677.1:n.1403A>T
XM_005264259.5:c.1490A>T	XP_005264316.1:p.Gln497Leu
XM_011532764.3:c.668A>T	XP_011531066.1:p.Gln223Leu
XM_011532765.3:c.668A>T	XP_011531067.1:p.Gln223Leu
XM_017003803.2:c.1319A>T	XP_016859292.1:p.Gln440Leu
XR_001738703.2:n.1403A>T
NM_000821.7:c.1490A>T MANE Select	NP_000812.2:p.Gln497Leu
NM_001142269.4:c.1319A>T	NP_001135741.1:p.Gln440Leu