Canonical Allele Identifier: CA347484900

Gene: GGCX

Linked Data

• dbSNP Id: rs1385664004
• gnomAD v2: 2-85779016-A-G
• gnomAD v3: 2-85551893-A-G
• gnomAD v4: 2-85551893-A-G
• MyVariant Identifiers: chr2:g.85779016A>G (hg19) ; chr2:g.85551893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551893A>G , CM000664.2:g.85551893A>G	GRCh38
NC_000002.11:g.85779016A>G , CM000664.1:g.85779016A>G	GRCh37
NC_000002.10:g.85632527A>G	NCBI36
NG_011811.2:g.14642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6006T>C
ENST00000482662.2:n.4413T>C
ENST00000685865.1:n.2365T>C
ENST00000687250.1:n.2065T>C
ENST00000687995.1:n.1880T>C
ENST00000688205.1:c.*1121T>C	ENSP00000509673.1:n.*1121T>C
ENST00000688788.1:n.1767T>C
ENST00000689276.1:c.1459T>C	ENSP00000510012.1:p.Ser487Pro
ENST00000689576.1:c.*147T>C	ENSP00000508712.1:n.*147T>C
ENST00000690108.1:c.*1184T>C	ENSP00000510617.1:n.*1184T>C
ENST00000690468.1:c.*80T>C	ENSP00000509078.1:n.*80T>C
ENST00000690595.1:c.853T>C	ENSP00000508979.1:p.Ser285Pro
ENST00000691348.1:c.*80T>C	ENSP00000509369.1:n.*80T>C
ENST00000691410.1:c.*1105T>C	ENSP00000508479.1:n.*1105T>C
ENST00000693287.1:c.844T>C	ENSP00000510264.1:p.Ser282Pro
ENST00000693681.1:c.841T>C	ENSP00000510789.1:p.Ser281Pro
ENST00000233838.9:c.1528T>C MANE Select	ENSP00000233838.3:p.Ser510Pro
ENST00000233838.8:c.1528T>C	ENSP00000233838.3:p.Ser510Pro
ENST00000430215.7:c.1357T>C	ENSP00000408045.3:p.Ser453Pro
ENST00000465637.5:n.179-3889T>C
NM_000821.5:c.1528T>C	NP_000812.2:p.Ser510Pro
NM_000821.6:c.1528T>C	NP_000812.2:p.Ser510Pro
NM_001142269.2:c.1357T>C	NP_001135741.1:p.Ser453Pro
NM_001142269.3:c.1357T>C	NP_001135741.1:p.Ser453Pro
XM_005264259.3:c.1528T>C	XP_005264316.1:p.Ser510Pro
XM_011532764.1:c.706T>C	XP_011531066.1:p.Ser236Pro
XM_011532765.1:c.706T>C	XP_011531067.1:p.Ser236Pro
XR_939677.1:n.1441T>C
XM_005264259.5:c.1528T>C	XP_005264316.1:p.Ser510Pro
XM_011532764.3:c.706T>C	XP_011531066.1:p.Ser236Pro
XM_011532765.3:c.706T>C	XP_011531067.1:p.Ser236Pro
XM_017003803.2:c.1357T>C	XP_016859292.1:p.Ser453Pro
XR_001738703.2:n.1441T>C
NM_000821.7:c.1528T>C MANE Select	NP_000812.2:p.Ser510Pro
NM_001142269.4:c.1357T>C	NP_001135741.1:p.Ser453Pro