Canonical Allele Identifier: CA427440149

Gene: GGCX

Linked Data

• dbSNP Id: rs1416935549
• gnomAD v2: 2-85779089-A-T
• gnomAD v3: 2-85551966-A-T
• gnomAD v4: 2-85551966-A-T
• MyVariant Identifiers: chr2:g.85779089A>T (hg19) ; chr2:g.85551966A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551966A>T , CM000664.2:g.85551966A>T	GRCh38
NC_000002.11:g.85779089A>T , CM000664.1:g.85779089A>T	GRCh37
NC_000002.10:g.85632600A>T	NCBI36
NG_011811.2:g.14569T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5933T>A
ENST00000482662.2:n.4340T>A
ENST00000685865.1:n.2292T>A
ENST00000687250.1:n.1992T>A
ENST00000687995.1:n.1807T>A
ENST00000688205.1:c.*1048T>A	ENSP00000509673.1:n.*1048T>A
ENST00000688788.1:n.1694T>A
ENST00000689276.1:c.1386T>A	ENSP00000510012.1:p.Arg462=
ENST00000689576.1:c.*74T>A	ENSP00000508712.1:n.*74T>A
ENST00000690108.1:c.*1111T>A	ENSP00000510617.1:n.*1111T>A
ENST00000690468.1:c.*7T>A	ENSP00000509078.1:n.*7T>A
ENST00000690595.1:c.780T>A	ENSP00000508979.1:p.Arg260=
ENST00000691348.1:c.*7T>A	ENSP00000509369.1:n.*7T>A
ENST00000691410.1:c.*1032T>A	ENSP00000508479.1:n.*1032T>A
ENST00000693287.1:c.771T>A	ENSP00000510264.1:p.Arg257=
ENST00000693681.1:c.768T>A	ENSP00000510789.1:p.Arg256=
ENST00000233838.9:c.1455T>A MANE Select	ENSP00000233838.3:p.Arg485=
ENST00000233838.8:c.1455T>A	ENSP00000233838.3:p.Arg485=
ENST00000430215.7:c.1284T>A	ENSP00000408045.3:p.Arg428=
ENST00000465637.5:n.179-3962T>A
NM_000821.5:c.1455T>A	NP_000812.2:p.Arg485=
NM_000821.6:c.1455T>A	NP_000812.2:p.Arg485=
NM_001142269.2:c.1284T>A	NP_001135741.1:p.Arg428=
NM_001142269.3:c.1284T>A	NP_001135741.1:p.Arg428=
XM_005264259.3:c.1455T>A	XP_005264316.1:p.Arg485=
XM_011532764.1:c.633T>A	XP_011531066.1:p.Arg211=
XM_011532765.1:c.633T>A	XP_011531067.1:p.Arg211=
XR_939677.1:n.1368T>A
XM_005264259.5:c.1455T>A	XP_005264316.1:p.Arg485=
XM_011532764.3:c.633T>A	XP_011531066.1:p.Arg211=
XM_011532765.3:c.633T>A	XP_011531067.1:p.Arg211=
XM_017003803.2:c.1284T>A	XP_016859292.1:p.Arg428=
XR_001738703.2:n.1368T>A
NM_000821.7:c.1455T>A MANE Select	NP_000812.2:p.Arg485=
NM_001142269.4:c.1284T>A	NP_001135741.1:p.Arg428=