Canonical Allele Identifier: CA1741809

Gene: GGCX

Linked Data

• dbSNP Id: rs367789884
• ExAC: 2:85779107 T / G
• gnomAD v2: 2-85779107-T-G
• gnomAD v3: 2-85551984-T-G
• gnomAD v4: 2-85551984-T-G
• MyVariant Identifiers: chr2:g.85779107T>G (hg19) ; chr2:g.85551984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551984T>G , CM000664.2:g.85551984T>G	GRCh38
NC_000002.11:g.85779107T>G , CM000664.1:g.85779107T>G	GRCh37
NC_000002.10:g.85632618T>G	NCBI36
NG_011811.2:g.14551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5915A>C
ENST00000482662.2:n.4322A>C
ENST00000685865.1:n.2274A>C
ENST00000687250.1:n.1974A>C
ENST00000687995.1:n.1792-3A>C
ENST00000688205.1:c.*1033-3A>C	ENSP00000509673.1:n.*1033-3A>C
ENST00000688788.1:n.1679-3A>C
ENST00000689276.1:c.1371-3A>C	ENSP00000510012.1:n.1371-3A>C
ENST00000689576.1:c.*59-3A>C	ENSP00000508712.1:n.*59-3A>C
ENST00000690108.1:c.*1096-3A>C	ENSP00000510617.1:n.*1096-3A>C
ENST00000690468.1:c.1009-3A>C	ENSP00000509078.1:n.1009-3A>C
ENST00000690595.1:c.765-3A>C	ENSP00000508979.1:n.765-3A>C
ENST00000691348.1:c.1117-3A>C	ENSP00000509369.1:n.1117-3A>C
ENST00000691410.1:c.*1017-3A>C	ENSP00000508479.1:n.*1017-3A>C
ENST00000693287.1:c.756-3A>C	ENSP00000510264.1:n.756-3A>C
ENST00000693681.1:c.753-3A>C	ENSP00000510789.1:n.753-3A>C
ENST00000233838.9:c.1440-3A>C MANE Select	ENSP00000233838.3:n.1440-3A>C
ENST00000233838.8:c.1440-3A>C	ENSP00000233838.3:n.1440-3A>C
ENST00000430215.7:c.1269-3A>C	ENSP00000408045.3:n.1269-3A>C
ENST00000465637.5:n.179-3980A>C
NM_000821.5:c.1440-3A>C	NP_000812.2:n.1440-3A>C
NM_000821.6:c.1440-3A>C	NP_000812.2:n.1440-3A>C
NM_001142269.2:c.1269-3A>C	NP_001135741.1:n.1269-3A>C
NM_001142269.3:c.1269-3A>C	NP_001135741.1:n.1269-3A>C
XM_005264259.3:c.1440-3A>C	XP_005264316.1:n.1440-3A>C
XM_011532764.1:c.618-3A>C	XP_011531066.1:n.618-3A>C
XM_011532765.1:c.618-3A>C	XP_011531067.1:n.618-3A>C
XR_939677.1:n.1353-3A>C
XM_005264259.5:c.1440-3A>C	XP_005264316.1:n.1440-3A>C
XM_011532764.3:c.618-3A>C	XP_011531066.1:n.618-3A>C
XM_011532765.3:c.618-3A>C	XP_011531067.1:n.618-3A>C
XM_017003803.2:c.1269-3A>C	XP_016859292.1:n.1269-3A>C
XR_001738703.2:n.1353-3A>C
NM_000821.7:c.1440-3A>C MANE Select	NP_000812.2:n.1440-3A>C
NM_001142269.4:c.1269-3A>C	NP_001135741.1:n.1269-3A>C