Canonical Allele Identifier: CA347486823

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780076A>G (hg19) ; chr2:g.85552953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85552953A>G , CM000664.2:g.85552953A>G	GRCh38
NC_000002.11:g.85780076A>G , CM000664.1:g.85780076A>G	GRCh37
NC_000002.10:g.85633587A>G	NCBI36
NG_011811.2:g.13582T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5317T>C
ENST00000482662.2:n.3724T>C
ENST00000685865.1:n.1676T>C
ENST00000687250.1:n.1376T>C
ENST00000687995.1:n.1625T>C
ENST00000688205.1:c.*866T>C	ENSP00000509673.1:n.*866T>C
ENST00000688788.1:n.1512T>C
ENST00000689276.1:c.1204T>C	ENSP00000510012.1:p.Tyr402His
ENST00000689576.1:c.1273T>C	ENSP00000508712.1:p.Tyr425His
ENST00000690108.1:c.*929T>C	ENSP00000510617.1:n.*929T>C
ENST00000690468.1:c.994T>C	ENSP00000509078.1:p.Tyr332His
ENST00000690595.1:c.598T>C	ENSP00000508979.1:p.Tyr200His
ENST00000691348.1:c.1102T>C	ENSP00000509369.1:p.Tyr368His
ENST00000691410.1:c.*850T>C	ENSP00000508479.1:n.*850T>C
ENST00000693287.1:c.589T>C	ENSP00000510264.1:p.Tyr197His
ENST00000693681.1:c.586T>C	ENSP00000510789.1:p.Tyr196His
ENST00000233838.9:c.1273T>C MANE Select	ENSP00000233838.3:p.Tyr425His
ENST00000233838.8:c.1273T>C	ENSP00000233838.3:p.Tyr425His
ENST00000430215.7:c.1102T>C	ENSP00000408045.3:p.Tyr368His
ENST00000465637.5:n.179-4949T>C
ENST00000473665.1:n.766T>C
ENST00000482662.1:n.690T>C
NM_000821.5:c.1273T>C	NP_000812.2:p.Tyr425His
NM_000821.6:c.1273T>C	NP_000812.2:p.Tyr425His
NM_001142269.2:c.1102T>C	NP_001135741.1:p.Tyr368His
NM_001142269.3:c.1102T>C	NP_001135741.1:p.Tyr368His
XM_005264259.3:c.1273T>C	XP_005264316.1:p.Tyr425His
XM_011532764.1:c.451T>C	XP_011531066.1:p.Tyr151His
XM_011532765.1:c.451T>C	XP_011531067.1:p.Tyr151His
XR_939677.1:n.1338T>C
XM_005264259.5:c.1273T>C	XP_005264316.1:p.Tyr425His
XM_011532764.3:c.451T>C	XP_011531066.1:p.Tyr151His
XM_011532765.3:c.451T>C	XP_011531067.1:p.Tyr151His
XM_017003803.2:c.1102T>C	XP_016859292.1:p.Tyr368His
XR_001738703.2:n.1338T>C
NM_000821.7:c.1273T>C MANE Select	NP_000812.2:p.Tyr425His
NM_001142269.4:c.1102T>C	NP_001135741.1:p.Tyr368His