Canonical Allele Identifier: CA534627840

Gene: GGCX

Linked Data

• dbSNP Id: rs1449503427
• gnomAD v2: 2-85780337-T-C
• MyVariant Identifiers: chr2:g.85780337T>C (hg19) ; chr2:g.85553214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553214T>C , CM000664.2:g.85553214T>C	GRCh38
NC_000002.11:g.85780337T>C , CM000664.1:g.85780337T>C	GRCh37
NC_000002.10:g.85633848T>C	NCBI36
NG_011811.2:g.13321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5199+18A>G
ENST00000482662.2:n.3606+18A>G
ENST00000685865.1:n.1558+18A>G
ENST00000687250.1:n.1258+18A>G
ENST00000687995.1:n.1507+18A>G
ENST00000688205.1:c.*748+18A>G	ENSP00000509673.1:n.*748+18A>G
ENST00000688788.1:n.1394+18A>G
ENST00000689276.1:c.1086+18A>G	ENSP00000510012.1:n.1086+18A>G
ENST00000689576.1:c.1155+18A>G	ENSP00000508712.1:n.1155+18A>G
ENST00000690108.1:c.*811+18A>G	ENSP00000510617.1:n.*811+18A>G
ENST00000690468.1:c.876+18A>G	ENSP00000509078.1:n.876+18A>G
ENST00000690595.1:c.480+18A>G	ENSP00000508979.1:n.480+18A>G
ENST00000691348.1:c.984+18A>G	ENSP00000509369.1:n.984+18A>G
ENST00000691410.1:c.*732+18A>G	ENSP00000508479.1:n.*732+18A>G
ENST00000693287.1:c.471+18A>G	ENSP00000510264.1:n.471+18A>G
ENST00000693681.1:c.468+18A>G	ENSP00000510789.1:n.468+18A>G
ENST00000233838.9:c.1155+18A>G MANE Select	ENSP00000233838.3:n.1155+18A>G
ENST00000233838.8:c.1155+18A>G	ENSP00000233838.3:n.1155+18A>G
ENST00000430215.7:c.984+18A>G	ENSP00000408045.3:n.984+18A>G
ENST00000465637.5:n.179-5210A>G
ENST00000473665.1:n.648+18A>G
ENST00000482662.1:n.572+18A>G
NM_000821.5:c.1155+18A>G	NP_000812.2:n.1155+18A>G
NM_000821.6:c.1155+18A>G	NP_000812.2:n.1155+18A>G
NM_001142269.2:c.984+18A>G	NP_001135741.1:n.984+18A>G
NM_001142269.3:c.984+18A>G	NP_001135741.1:n.984+18A>G
XM_005264259.3:c.1155+18A>G	XP_005264316.1:n.1155+18A>G
XM_011532764.1:c.333+18A>G	XP_011531066.1:n.333+18A>G
XM_011532765.1:c.333+18A>G	XP_011531067.1:n.333+18A>G
XR_939677.1:n.1220+18A>G
XM_005264259.5:c.1155+18A>G	XP_005264316.1:n.1155+18A>G
XM_011532764.3:c.333+18A>G	XP_011531066.1:n.333+18A>G
XM_011532765.3:c.333+18A>G	XP_011531067.1:n.333+18A>G
XM_017003803.2:c.984+18A>G	XP_016859292.1:n.984+18A>G
XR_001738703.2:n.1220+18A>G
NM_000821.7:c.1155+18A>G MANE Select	NP_000812.2:n.1155+18A>G
NM_001142269.4:c.984+18A>G	NP_001135741.1:n.984+18A>G