Canonical Allele Identifier: CA347486987

Gene: GGCX

Linked Data

• dbSNP Id: rs1353541578
• gnomAD v2: 2-85780137-G-T
• gnomAD v4: 2-85553014-G-T
• MyVariant Identifiers: chr2:g.85780137G>T (hg19) ; chr2:g.85553014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553014G>T , CM000664.2:g.85553014G>T	GRCh38
NC_000002.11:g.85780137G>T , CM000664.1:g.85780137G>T	GRCh37
NC_000002.10:g.85633648G>T	NCBI36
NG_011811.2:g.13521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5256C>A
ENST00000482662.2:n.3663C>A
ENST00000685865.1:n.1615C>A
ENST00000687250.1:n.1315C>A
ENST00000687995.1:n.1564C>A
ENST00000688205.1:c.*805C>A	ENSP00000509673.1:n.*805C>A
ENST00000688788.1:n.1451C>A
ENST00000689276.1:c.1143C>A	ENSP00000510012.1:p.His381Gln
ENST00000689576.1:c.1212C>A	ENSP00000508712.1:p.His404Gln
ENST00000690108.1:c.*868C>A	ENSP00000510617.1:n.*868C>A
ENST00000690468.1:c.933C>A	ENSP00000509078.1:p.His311Gln
ENST00000690595.1:c.537C>A	ENSP00000508979.1:p.His179Gln
ENST00000691348.1:c.1041C>A	ENSP00000509369.1:p.His347Gln
ENST00000691410.1:c.*789C>A	ENSP00000508479.1:n.*789C>A
ENST00000693287.1:c.528C>A	ENSP00000510264.1:p.His176Gln
ENST00000693681.1:c.525C>A	ENSP00000510789.1:p.His175Gln
ENST00000233838.9:c.1212C>A MANE Select	ENSP00000233838.3:p.His404Gln
ENST00000233838.8:c.1212C>A	ENSP00000233838.3:p.His404Gln
ENST00000430215.7:c.1041C>A	ENSP00000408045.3:p.His347Gln
ENST00000465637.5:n.179-5010C>A
ENST00000473665.1:n.705C>A
ENST00000482662.1:n.629C>A
NM_000821.5:c.1212C>A	NP_000812.2:p.His404Gln
NM_000821.6:c.1212C>A	NP_000812.2:p.His404Gln
NM_001142269.2:c.1041C>A	NP_001135741.1:p.His347Gln
NM_001142269.3:c.1041C>A	NP_001135741.1:p.His347Gln
XM_005264259.3:c.1212C>A	XP_005264316.1:p.His404Gln
XM_011532764.1:c.390C>A	XP_011531066.1:p.His130Gln
XM_011532765.1:c.390C>A	XP_011531067.1:p.His130Gln
XR_939677.1:n.1277C>A
XM_005264259.5:c.1212C>A	XP_005264316.1:p.His404Gln
XM_011532764.3:c.390C>A	XP_011531066.1:p.His130Gln
XM_011532765.3:c.390C>A	XP_011531067.1:p.His130Gln
XM_017003803.2:c.1041C>A	XP_016859292.1:p.His347Gln
XR_001738703.2:n.1277C>A
NM_000821.7:c.1212C>A MANE Select	NP_000812.2:p.His404Gln
NM_001142269.4:c.1041C>A	NP_001135741.1:p.His347Gln