Canonical Allele Identifier: CA51736672

Gene: GGCX

Linked Data

• dbSNP Id: rs980749180
• gnomAD v2: 2-85780526-T-C
• gnomAD v3: 2-85553403-T-C
• gnomAD v4: 2-85553403-T-C
• MyVariant Identifiers: chr2:g.85780526T>C (hg19) ; chr2:g.85553403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553403T>C , CM000664.2:g.85553403T>C	GRCh38
NC_000002.11:g.85780526T>C , CM000664.1:g.85780526T>C	GRCh37
NC_000002.10:g.85634037T>C	NCBI36
NG_011811.2:g.13132A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5028A>G
ENST00000482662.2:n.3435A>G
ENST00000685865.1:n.1387A>G
ENST00000687250.1:n.1087A>G
ENST00000687995.1:n.1336A>G
ENST00000688205.1:c.*577A>G	ENSP00000509673.1:n.*577A>G
ENST00000688788.1:n.1223A>G
ENST00000689276.1:c.915A>G	ENSP00000510012.1:p.Gln305=
ENST00000689576.1:c.984A>G	ENSP00000508712.1:p.Gln328=
ENST00000690108.1:c.*640A>G	ENSP00000510617.1:n.*640A>G
ENST00000690468.1:c.705A>G	ENSP00000509078.1:p.Gln235=
ENST00000690595.1:c.309A>G	ENSP00000508979.1:p.Gln103=
ENST00000691348.1:c.813A>G	ENSP00000509369.1:p.Gln271=
ENST00000691410.1:c.*561A>G	ENSP00000508479.1:n.*561A>G
ENST00000693287.1:c.300A>G	ENSP00000510264.1:p.Gln100=
ENST00000693681.1:c.297A>G	ENSP00000510789.1:p.Gln99=
ENST00000233838.9:c.984A>G MANE Select	ENSP00000233838.3:p.Gln328=
ENST00000233838.8:c.984A>G	ENSP00000233838.3:p.Gln328=
ENST00000430215.7:c.813A>G	ENSP00000408045.3:p.Gln271=
ENST00000465637.5:n.179-5399A>G
ENST00000473665.1:n.477A>G
ENST00000482662.1:n.401A>G
NM_000821.5:c.984A>G	NP_000812.2:p.Gln328=
NM_000821.6:c.984A>G	NP_000812.2:p.Gln328=
NM_001142269.2:c.813A>G	NP_001135741.1:p.Gln271=
NM_001142269.3:c.813A>G	NP_001135741.1:p.Gln271=
XM_005264259.3:c.984A>G	XP_005264316.1:p.Gln328=
XM_011532764.1:c.162A>G	XP_011531066.1:p.Gln54=
XM_011532765.1:c.162A>G	XP_011531067.1:p.Gln54=
XR_939677.1:n.1049A>G
XM_005264259.5:c.984A>G	XP_005264316.1:p.Gln328=
XM_011532764.3:c.162A>G	XP_011531066.1:p.Gln54=
XM_011532765.3:c.162A>G	XP_011531067.1:p.Gln54=
XM_017003803.2:c.813A>G	XP_016859292.1:p.Gln271=
XR_001738703.2:n.1049A>G
NM_000821.7:c.984A>G MANE Select	NP_000812.2:p.Gln328=
NM_001142269.4:c.813A>G	NP_001135741.1:p.Gln271=