Canonical Allele Identifier: CA1741781

Gene: GGCX

Linked Data

• dbSNP Id: rs780403986
• ExAC: 2:85778945 T / C
• gnomAD v2: 2-85778945-T-C
• gnomAD v4: 2-85551822-T-C
• MyVariant Identifiers: chr2:g.85778945T>C (hg19) ; chr2:g.85551822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551822T>C , CM000664.2:g.85551822T>C	GRCh38
NC_000002.11:g.85778945T>C , CM000664.1:g.85778945T>C	GRCh37
NC_000002.10:g.85632456T>C	NCBI36
NG_011811.2:g.14713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6077A>G
ENST00000482662.2:n.4484A>G
ENST00000685865.1:n.2436A>G
ENST00000687250.1:n.2136A>G
ENST00000687995.1:n.1951A>G
ENST00000688205.1:c.*1192A>G	ENSP00000509673.1:n.*1192A>G
ENST00000688788.1:n.1838A>G
ENST00000689276.1:c.1530A>G	ENSP00000510012.1:p.Ala510=
ENST00000689576.1:c.*218A>G	ENSP00000508712.1:n.*218A>G
ENST00000690108.1:c.*1255A>G	ENSP00000510617.1:n.*1255A>G
ENST00000690468.1:c.*151A>G	ENSP00000509078.1:n.*151A>G
ENST00000690595.1:c.924A>G	ENSP00000508979.1:p.Ala308=
ENST00000691348.1:c.*151A>G	ENSP00000509369.1:n.*151A>G
ENST00000691410.1:c.*1176A>G	ENSP00000508479.1:n.*1176A>G
ENST00000693287.1:c.915A>G	ENSP00000510264.1:p.Ala305=
ENST00000693681.1:c.912A>G	ENSP00000510789.1:p.Ala304=
ENST00000233838.9:c.1599A>G MANE Select	ENSP00000233838.3:p.Ala533=
ENST00000233838.8:c.1599A>G	ENSP00000233838.3:p.Ala533=
ENST00000430215.7:c.1428A>G	ENSP00000408045.3:p.Ala476=
ENST00000465637.5:n.179-3818A>G
NM_000821.5:c.1599A>G	NP_000812.2:p.Ala533=
NM_000821.6:c.1599A>G	NP_000812.2:p.Ala533=
NM_001142269.2:c.1428A>G	NP_001135741.1:p.Ala476=
NM_001142269.3:c.1428A>G	NP_001135741.1:p.Ala476=
XM_005264259.3:c.1599A>G	XP_005264316.1:p.Ala533=
XM_011532764.1:c.777A>G	XP_011531066.1:p.Ala259=
XM_011532765.1:c.777A>G	XP_011531067.1:p.Ala259=
XR_939677.1:n.1512A>G
XM_005264259.5:c.1599A>G	XP_005264316.1:p.Ala533=
XM_011532764.3:c.777A>G	XP_011531066.1:p.Ala259=
XM_011532765.3:c.777A>G	XP_011531067.1:p.Ala259=
XM_017003803.2:c.1428A>G	XP_016859292.1:p.Ala476=
XR_001738703.2:n.1512A>G
NM_000821.7:c.1599A>G MANE Select	NP_000812.2:p.Ala533=
NM_001142269.4:c.1428A>G	NP_001135741.1:p.Ala476=