Canonical Allele Identifier: CA1741800

Gene: GGCX

Linked Data

• dbSNP Id: rs150990432
• ExAC: 2:85779070 C / T
• gnomAD v2: 2-85779070-C-T
• gnomAD v4: 2-85551947-C-T
• MyVariant Identifiers: chr2:g.85779070C>T (hg19) ; chr2:g.85551947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551947C>T , CM000664.2:g.85551947C>T	GRCh38
NC_000002.11:g.85779070C>T , CM000664.1:g.85779070C>T	GRCh37
NC_000002.10:g.85632581C>T	NCBI36
NG_011811.2:g.14588G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5952G>A
ENST00000482662.2:n.4359G>A
ENST00000685865.1:n.2311G>A
ENST00000687250.1:n.2011G>A
ENST00000687995.1:n.1826G>A
ENST00000688205.1:c.*1067G>A	ENSP00000509673.1:n.*1067G>A
ENST00000688788.1:n.1713G>A
ENST00000689276.1:c.1405G>A	ENSP00000510012.1:p.Ala469Thr
ENST00000689576.1:c.*93G>A	ENSP00000508712.1:n.*93G>A
ENST00000690108.1:c.*1130G>A	ENSP00000510617.1:n.*1130G>A
ENST00000690468.1:c.*26G>A	ENSP00000509078.1:n.*26G>A
ENST00000690595.1:c.799G>A	ENSP00000508979.1:p.Ala267Thr
ENST00000691348.1:c.*26G>A	ENSP00000509369.1:n.*26G>A
ENST00000691410.1:c.*1051G>A	ENSP00000508479.1:n.*1051G>A
ENST00000693287.1:c.790G>A	ENSP00000510264.1:p.Ala264Thr
ENST00000693681.1:c.787G>A	ENSP00000510789.1:p.Ala263Thr
ENST00000233838.9:c.1474G>A MANE Select	ENSP00000233838.3:p.Ala492Thr
ENST00000233838.8:c.1474G>A	ENSP00000233838.3:p.Ala492Thr
ENST00000430215.7:c.1303G>A	ENSP00000408045.3:p.Ala435Thr
ENST00000465637.5:n.179-3943G>A
NM_000821.5:c.1474G>A	NP_000812.2:p.Ala492Thr
NM_000821.6:c.1474G>A	NP_000812.2:p.Ala492Thr
NM_001142269.2:c.1303G>A	NP_001135741.1:p.Ala435Thr
NM_001142269.3:c.1303G>A	NP_001135741.1:p.Ala435Thr
XM_005264259.3:c.1474G>A	XP_005264316.1:p.Ala492Thr
XM_011532764.1:c.652G>A	XP_011531066.1:p.Ala218Thr
XM_011532765.1:c.652G>A	XP_011531067.1:p.Ala218Thr
XR_939677.1:n.1387G>A
XM_005264259.5:c.1474G>A	XP_005264316.1:p.Ala492Thr
XM_011532764.3:c.652G>A	XP_011531066.1:p.Ala218Thr
XM_011532765.3:c.652G>A	XP_011531067.1:p.Ala218Thr
XM_017003803.2:c.1303G>A	XP_016859292.1:p.Ala435Thr
XR_001738703.2:n.1387G>A
NM_000821.7:c.1474G>A MANE Select	NP_000812.2:p.Ala492Thr
NM_001142269.4:c.1303G>A	NP_001135741.1:p.Ala435Thr