Canonical Allele Identifier: CA427440136

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551960-G-A
• MyVariant Identifiers: chr2:g.85779083G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551960G>A , CM000664.2:g.85551960G>A	GRCh38
NC_000002.11:g.85779083G>A , CM000664.1:g.85779083G>A	GRCh37
NC_000002.10:g.85632594G>A	NCBI36
NG_011811.2:g.14575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5939C>T
ENST00000482662.2:n.4346C>T
ENST00000685865.1:n.2298C>T
ENST00000687250.1:n.1998C>T
ENST00000687995.1:n.1813C>T
ENST00000688205.1:c.*1054C>T	ENSP00000509673.1:n.*1054C>T
ENST00000688788.1:n.1700C>T
ENST00000689276.1:c.1392C>T	ENSP00000510012.1:p.Asp464=
ENST00000689576.1:c.*80C>T	ENSP00000508712.1:n.*80C>T
ENST00000690108.1:c.*1117C>T	ENSP00000510617.1:n.*1117C>T
ENST00000690468.1:c.*13C>T	ENSP00000509078.1:n.*13C>T
ENST00000690595.1:c.786C>T	ENSP00000508979.1:p.Asp262=
ENST00000691348.1:c.*13C>T	ENSP00000509369.1:n.*13C>T
ENST00000691410.1:c.*1038C>T	ENSP00000508479.1:n.*1038C>T
ENST00000693287.1:c.777C>T	ENSP00000510264.1:p.Asp259=
ENST00000693681.1:c.774C>T	ENSP00000510789.1:p.Asp258=
ENST00000233838.9:c.1461C>T MANE Select	ENSP00000233838.3:p.Asp487=
ENST00000233838.8:c.1461C>T	ENSP00000233838.3:p.Asp487=
ENST00000430215.7:c.1290C>T	ENSP00000408045.3:p.Asp430=
ENST00000465637.5:n.179-3956C>T
NM_000821.5:c.1461C>T	NP_000812.2:p.Asp487=
NM_000821.6:c.1461C>T	NP_000812.2:p.Asp487=
NM_001142269.2:c.1290C>T	NP_001135741.1:p.Asp430=
NM_001142269.3:c.1290C>T	NP_001135741.1:p.Asp430=
XM_005264259.3:c.1461C>T	XP_005264316.1:p.Asp487=
XM_011532764.1:c.639C>T	XP_011531066.1:p.Asp213=
XM_011532765.1:c.639C>T	XP_011531067.1:p.Asp213=
XR_939677.1:n.1374C>T
XM_005264259.5:c.1461C>T	XP_005264316.1:p.Asp487=
XM_011532764.3:c.639C>T	XP_011531066.1:p.Asp213=
XM_011532765.3:c.639C>T	XP_011531067.1:p.Asp213=
XM_017003803.2:c.1290C>T	XP_016859292.1:p.Asp430=
XR_001738703.2:n.1374C>T
NM_000821.7:c.1461C>T MANE Select	NP_000812.2:p.Asp487=
NM_001142269.4:c.1290C>T	NP_001135741.1:p.Asp430=