Canonical Allele Identifier: CA1741978

Gene: GGCX

Linked Data

• dbSNP Id: rs769896948
• ExAC: 2:85780630 C / G
• gnomAD v2: 2-85780630-C-G
• gnomAD v4: 2-85553507-C-G
• MyVariant Identifiers: chr2:g.85780630C>G (hg19) ; chr2:g.85553507C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553507C>G , CM000664.2:g.85553507C>G	GRCh38
NC_000002.11:g.85780630C>G , CM000664.1:g.85780630C>G	GRCh37
NC_000002.10:g.85634141C>G	NCBI36
NG_011811.2:g.13028G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.4934-10G>C
ENST00000482662.2:n.3331G>C
ENST00000685865.1:n.1293-10G>C
ENST00000687250.1:n.993-10G>C
ENST00000687995.1:n.1242-10G>C
ENST00000688205.1:c.*483-10G>C	ENSP00000509673.1:n.*483-10G>C
ENST00000688788.1:n.1129-10G>C
ENST00000689276.1:c.821-10G>C	ENSP00000510012.1:n.821-10G>C
ENST00000689576.1:c.890-10G>C	ENSP00000508712.1:n.890-10G>C
ENST00000690108.1:c.*546-10G>C	ENSP00000510617.1:n.*546-10G>C
ENST00000690468.1:c.611-10G>C	ENSP00000509078.1:n.611-10G>C
ENST00000690595.1:c.215-10G>C	ENSP00000508979.1:n.215-10G>C
ENST00000691348.1:c.719-10G>C	ENSP00000509369.1:n.719-10G>C
ENST00000691410.1:c.*467-10G>C	ENSP00000508479.1:n.*467-10G>C
ENST00000693287.1:c.206-10G>C	ENSP00000510264.1:n.206-10G>C
ENST00000693681.1:c.203-10G>C	ENSP00000510789.1:n.203-10G>C
ENST00000233838.9:c.890-10G>C MANE Select	ENSP00000233838.3:n.890-10G>C
ENST00000233838.8:c.890-10G>C	ENSP00000233838.3:n.890-10G>C
ENST00000430215.7:c.719-10G>C	ENSP00000408045.3:n.719-10G>C
ENST00000465637.5:n.178+5499G>C
ENST00000473665.1:n.383-10G>C
ENST00000482662.1:n.297G>C
NM_000821.5:c.890-10G>C	NP_000812.2:n.890-10G>C
NM_000821.6:c.890-10G>C	NP_000812.2:n.890-10G>C
NM_001142269.2:c.719-10G>C	NP_001135741.1:n.719-10G>C
NM_001142269.3:c.719-10G>C	NP_001135741.1:n.719-10G>C
XM_005264259.3:c.890-10G>C	XP_005264316.1:n.890-10G>C
XM_011532764.1:c.68-10G>C	XP_011531066.1:n.68-10G>C
XM_011532765.1:c.68-10G>C	XP_011531067.1:n.68-10G>C
XR_939677.1:n.955-10G>C
XM_005264259.5:c.890-10G>C	XP_005264316.1:n.890-10G>C
XM_011532764.3:c.68-10G>C	XP_011531066.1:n.68-10G>C
XM_011532765.3:c.68-10G>C	XP_011531067.1:n.68-10G>C
XM_017003803.2:c.719-10G>C	XP_016859292.1:n.719-10G>C
XR_001738703.2:n.955-10G>C
NM_000821.7:c.890-10G>C MANE Select	NP_000812.2:n.890-10G>C
NM_001142269.4:c.719-10G>C	NP_001135741.1:n.719-10G>C