Canonical Allele Identifier: CA427440036

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551855-G-A
• MyVariant Identifiers: chr2:g.85778978G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551855G>A , CM000664.2:g.85551855G>A	GRCh38
NC_000002.11:g.85778978G>A , CM000664.1:g.85778978G>A	GRCh37
NC_000002.10:g.85632489G>A	NCBI36
NG_011811.2:g.14680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6044C>T
ENST00000482662.2:n.4451C>T
ENST00000685865.1:n.2403C>T
ENST00000687250.1:n.2103C>T
ENST00000687995.1:n.1918C>T
ENST00000688205.1:c.*1159C>T	ENSP00000509673.1:n.*1159C>T
ENST00000688788.1:n.1805C>T
ENST00000689276.1:c.1497C>T	ENSP00000510012.1:p.Ser499=
ENST00000689576.1:c.*185C>T	ENSP00000508712.1:n.*185C>T
ENST00000690108.1:c.*1222C>T	ENSP00000510617.1:n.*1222C>T
ENST00000690468.1:c.*118C>T	ENSP00000509078.1:n.*118C>T
ENST00000690595.1:c.891C>T	ENSP00000508979.1:p.Ser297=
ENST00000691348.1:c.*118C>T	ENSP00000509369.1:n.*118C>T
ENST00000691410.1:c.*1143C>T	ENSP00000508479.1:n.*1143C>T
ENST00000693287.1:c.882C>T	ENSP00000510264.1:p.Ser294=
ENST00000693681.1:c.879C>T	ENSP00000510789.1:p.Ser293=
ENST00000233838.9:c.1566C>T MANE Select	ENSP00000233838.3:p.Ser522=
ENST00000233838.8:c.1566C>T	ENSP00000233838.3:p.Ser522=
ENST00000430215.7:c.1395C>T	ENSP00000408045.3:p.Ser465=
ENST00000465637.5:n.179-3851C>T
NM_000821.5:c.1566C>T	NP_000812.2:p.Ser522=
NM_000821.6:c.1566C>T	NP_000812.2:p.Ser522=
NM_001142269.2:c.1395C>T	NP_001135741.1:p.Ser465=
NM_001142269.3:c.1395C>T	NP_001135741.1:p.Ser465=
XM_005264259.3:c.1566C>T	XP_005264316.1:p.Ser522=
XM_011532764.1:c.744C>T	XP_011531066.1:p.Ser248=
XM_011532765.1:c.744C>T	XP_011531067.1:p.Ser248=
XR_939677.1:n.1479C>T
XM_005264259.5:c.1566C>T	XP_005264316.1:p.Ser522=
XM_011532764.3:c.744C>T	XP_011531066.1:p.Ser248=
XM_011532765.3:c.744C>T	XP_011531067.1:p.Ser248=
XM_017003803.2:c.1395C>T	XP_016859292.1:p.Ser465=
XR_001738703.2:n.1479C>T
NM_000821.7:c.1566C>T MANE Select	NP_000812.2:p.Ser522=
NM_001142269.4:c.1395C>T	NP_001135741.1:p.Ser465=