Canonical Allele Identifier: CA51735954

Gene: GGCX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5952G>T
ENST00000482662.2:n.4359G>T
ENST00000685865.1:n.2311G>T
ENST00000687250.1:n.2011G>T
ENST00000687995.1:n.1826G>T
ENST00000688205.1:c.*1067G>T	ENSP00000509673.1:n.*1067G>T
ENST00000688788.1:n.1713G>T
ENST00000689276.1:c.1405G>T	ENSP00000510012.1:p.Ala469Ser
ENST00000689576.1:c.*93G>T	ENSP00000508712.1:n.*93G>T
ENST00000690108.1:c.*1130G>T	ENSP00000510617.1:n.*1130G>T
ENST00000690468.1:c.*26G>T	ENSP00000509078.1:n.*26G>T
ENST00000690595.1:c.799G>T	ENSP00000508979.1:p.Ala267Ser
ENST00000691348.1:c.*26G>T	ENSP00000509369.1:n.*26G>T
ENST00000691410.1:c.*1051G>T	ENSP00000508479.1:n.*1051G>T
ENST00000693287.1:c.790G>T	ENSP00000510264.1:p.Ala264Ser
ENST00000693681.1:c.787G>T	ENSP00000510789.1:p.Ala263Ser
ENST00000233838.9:c.1474G>T MANE Select	ENSP00000233838.3:p.Ala492Ser
ENST00000233838.8:c.1474G>T	ENSP00000233838.3:p.Ala492Ser
ENST00000430215.7:c.1303G>T	ENSP00000408045.3:p.Ala435Ser
ENST00000465637.5:n.179-3943G>T
NM_000821.5:c.1474G>T	NP_000812.2:p.Ala492Ser
NM_000821.6:c.1474G>T	NP_000812.2:p.Ala492Ser
NM_001142269.2:c.1303G>T	NP_001135741.1:p.Ala435Ser
NM_001142269.3:c.1303G>T	NP_001135741.1:p.Ala435Ser
XM_005264259.3:c.1474G>T	XP_005264316.1:p.Ala492Ser
XM_011532764.1:c.652G>T	XP_011531066.1:p.Ala218Ser
XM_011532765.1:c.652G>T	XP_011531067.1:p.Ala218Ser
XR_939677.1:n.1387G>T
XM_005264259.5:c.1474G>T	XP_005264316.1:p.Ala492Ser
XM_011532764.3:c.652G>T	XP_011531066.1:p.Ala218Ser
XM_011532765.3:c.652G>T	XP_011531067.1:p.Ala218Ser
XM_017003803.2:c.1303G>T	XP_016859292.1:p.Ala435Ser
XR_001738703.2:n.1387G>T
NM_000821.7:c.1474G>T MANE Select	NP_000812.2:p.Ala492Ser
NM_001142269.4:c.1303G>T	NP_001135741.1:p.Ala435Ser