Canonical Allele Identifier: CA347484872

Gene: GGCX

Linked Data

• dbSNP Id: rs1448627053
• gnomAD v2: 2-85779003-G-A
• gnomAD v4: 2-85551880-G-A
• MyVariant Identifiers: chr2:g.85779003G>A (hg19) ; chr2:g.85551880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551880G>A , CM000664.2:g.85551880G>A	GRCh38
NC_000002.11:g.85779003G>A , CM000664.1:g.85779003G>A	GRCh37
NC_000002.10:g.85632514G>A	NCBI36
NG_011811.2:g.14655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6019C>T
ENST00000482662.2:n.4426C>T
ENST00000685865.1:n.2378C>T
ENST00000687250.1:n.2078C>T
ENST00000687995.1:n.1893C>T
ENST00000688205.1:c.*1134C>T	ENSP00000509673.1:n.*1134C>T
ENST00000688788.1:n.1780C>T
ENST00000689276.1:c.1472C>T	ENSP00000510012.1:p.Ala491Val
ENST00000689576.1:c.*160C>T	ENSP00000508712.1:n.*160C>T
ENST00000690108.1:c.*1197C>T	ENSP00000510617.1:n.*1197C>T
ENST00000690468.1:c.*93C>T	ENSP00000509078.1:n.*93C>T
ENST00000690595.1:c.866C>T	ENSP00000508979.1:p.Ala289Val
ENST00000691348.1:c.*93C>T	ENSP00000509369.1:n.*93C>T
ENST00000691410.1:c.*1118C>T	ENSP00000508479.1:n.*1118C>T
ENST00000693287.1:c.857C>T	ENSP00000510264.1:p.Ala286Val
ENST00000693681.1:c.854C>T	ENSP00000510789.1:p.Ala285Val
ENST00000233838.9:c.1541C>T MANE Select	ENSP00000233838.3:p.Ala514Val
ENST00000233838.8:c.1541C>T	ENSP00000233838.3:p.Ala514Val
ENST00000430215.7:c.1370C>T	ENSP00000408045.3:p.Ala457Val
ENST00000465637.5:n.179-3876C>T
NM_000821.5:c.1541C>T	NP_000812.2:p.Ala514Val
NM_000821.6:c.1541C>T	NP_000812.2:p.Ala514Val
NM_001142269.2:c.1370C>T	NP_001135741.1:p.Ala457Val
NM_001142269.3:c.1370C>T	NP_001135741.1:p.Ala457Val
XM_005264259.3:c.1541C>T	XP_005264316.1:p.Ala514Val
XM_011532764.1:c.719C>T	XP_011531066.1:p.Ala240Val
XM_011532765.1:c.719C>T	XP_011531067.1:p.Ala240Val
XR_939677.1:n.1454C>T
XM_005264259.5:c.1541C>T	XP_005264316.1:p.Ala514Val
XM_011532764.3:c.719C>T	XP_011531066.1:p.Ala240Val
XM_011532765.3:c.719C>T	XP_011531067.1:p.Ala240Val
XM_017003803.2:c.1370C>T	XP_016859292.1:p.Ala457Val
XR_001738703.2:n.1454C>T
NM_000821.7:c.1541C>T MANE Select	NP_000812.2:p.Ala514Val
NM_001142269.4:c.1370C>T	NP_001135741.1:p.Ala457Val