Canonical Allele Identifier: CA427440023

Gene: GGCX

Linked Data

• dbSNP Id: rs1691967505
• gnomAD v3: 2-85551840-A-G
• gnomAD v4: 2-85551840-A-G
• MyVariant Identifiers: chr2:g.85778963A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551840A>G , CM000664.2:g.85551840A>G	GRCh38
NC_000002.11:g.85778963A>G , CM000664.1:g.85778963A>G	GRCh37
NC_000002.10:g.85632474A>G	NCBI36
NG_011811.2:g.14695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6059T>C
ENST00000482662.2:n.4466T>C
ENST00000685865.1:n.2418T>C
ENST00000687250.1:n.2118T>C
ENST00000687995.1:n.1933T>C
ENST00000688205.1:c.*1174T>C	ENSP00000509673.1:n.*1174T>C
ENST00000688788.1:n.1820T>C
ENST00000689276.1:c.1512T>C	ENSP00000510012.1:p.Thr504=
ENST00000689576.1:c.*200T>C	ENSP00000508712.1:n.*200T>C
ENST00000690108.1:c.*1237T>C	ENSP00000510617.1:n.*1237T>C
ENST00000690468.1:c.*133T>C	ENSP00000509078.1:n.*133T>C
ENST00000690595.1:c.906T>C	ENSP00000508979.1:p.Thr302=
ENST00000691348.1:c.*133T>C	ENSP00000509369.1:n.*133T>C
ENST00000691410.1:c.*1158T>C	ENSP00000508479.1:n.*1158T>C
ENST00000693287.1:c.897T>C	ENSP00000510264.1:p.Thr299=
ENST00000693681.1:c.894T>C	ENSP00000510789.1:p.Thr298=
ENST00000233838.9:c.1581T>C MANE Select	ENSP00000233838.3:p.Thr527=
ENST00000233838.8:c.1581T>C	ENSP00000233838.3:p.Thr527=
ENST00000430215.7:c.1410T>C	ENSP00000408045.3:p.Thr470=
ENST00000465637.5:n.179-3836T>C
NM_000821.5:c.1581T>C	NP_000812.2:p.Thr527=
NM_000821.6:c.1581T>C	NP_000812.2:p.Thr527=
NM_001142269.2:c.1410T>C	NP_001135741.1:p.Thr470=
NM_001142269.3:c.1410T>C	NP_001135741.1:p.Thr470=
XM_005264259.3:c.1581T>C	XP_005264316.1:p.Thr527=
XM_011532764.1:c.759T>C	XP_011531066.1:p.Thr253=
XM_011532765.1:c.759T>C	XP_011531067.1:p.Thr253=
XR_939677.1:n.1494T>C
XM_005264259.5:c.1581T>C	XP_005264316.1:p.Thr527=
XM_011532764.3:c.759T>C	XP_011531066.1:p.Thr253=
XM_011532765.3:c.759T>C	XP_011531067.1:p.Thr253=
XM_017003803.2:c.1410T>C	XP_016859292.1:p.Thr470=
XR_001738703.2:n.1494T>C
NM_000821.7:c.1581T>C MANE Select	NP_000812.2:p.Thr527=
NM_001142269.4:c.1410T>C	NP_001135741.1:p.Thr470=