Canonical Allele Identifier: CA427440060

Gene: GGCX

Linked Data

• dbSNP Id: rs1345988487
• gnomAD v2: 2-85780381-G-A
• gnomAD v4: 2-85553258-G-A
• MyVariant Identifiers: chr2:g.85780381G>A (hg19) ; chr2:g.85553258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553258G>A , CM000664.2:g.85553258G>A	GRCh38
NC_000002.11:g.85780381G>A , CM000664.1:g.85780381G>A	GRCh37
NC_000002.10:g.85633892G>A	NCBI36
NG_011811.2:g.13277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5173C>T
ENST00000482662.2:n.3580C>T
ENST00000685865.1:n.1532C>T
ENST00000687250.1:n.1232C>T
ENST00000687995.1:n.1481C>T
ENST00000688205.1:c.*722C>T	ENSP00000509673.1:n.*722C>T
ENST00000688788.1:n.1368C>T
ENST00000689276.1:c.1060C>T	ENSP00000510012.1:p.Leu354=
ENST00000689576.1:c.1129C>T	ENSP00000508712.1:p.Leu377=
ENST00000690108.1:c.*785C>T	ENSP00000510617.1:n.*785C>T
ENST00000690468.1:c.850C>T	ENSP00000509078.1:p.Leu284=
ENST00000690595.1:c.454C>T	ENSP00000508979.1:p.Leu152=
ENST00000691348.1:c.958C>T	ENSP00000509369.1:p.Leu320=
ENST00000691410.1:c.*706C>T	ENSP00000508479.1:n.*706C>T
ENST00000693287.1:c.445C>T	ENSP00000510264.1:p.Leu149=
ENST00000693681.1:c.442C>T	ENSP00000510789.1:p.Leu148=
ENST00000233838.9:c.1129C>T MANE Select	ENSP00000233838.3:p.Leu377=
ENST00000233838.8:c.1129C>T	ENSP00000233838.3:p.Leu377=
ENST00000430215.7:c.958C>T	ENSP00000408045.3:p.Leu320=
ENST00000465637.5:n.179-5254C>T
ENST00000473665.1:n.622C>T
ENST00000482662.1:n.546C>T
NM_000821.5:c.1129C>T	NP_000812.2:p.Leu377=
NM_000821.6:c.1129C>T	NP_000812.2:p.Leu377=
NM_001142269.2:c.958C>T	NP_001135741.1:p.Leu320=
NM_001142269.3:c.958C>T	NP_001135741.1:p.Leu320=
XM_005264259.3:c.1129C>T	XP_005264316.1:p.Leu377=
XM_011532764.1:c.307C>T	XP_011531066.1:p.Leu103=
XM_011532765.1:c.307C>T	XP_011531067.1:p.Leu103=
XR_939677.1:n.1194C>T
XM_005264259.5:c.1129C>T	XP_005264316.1:p.Leu377=
XM_011532764.3:c.307C>T	XP_011531066.1:p.Leu103=
XM_011532765.3:c.307C>T	XP_011531067.1:p.Leu103=
XM_017003803.2:c.958C>T	XP_016859292.1:p.Leu320=
XR_001738703.2:n.1194C>T
NM_000821.7:c.1129C>T MANE Select	NP_000812.2:p.Leu377=
NM_001142269.4:c.958C>T	NP_001135741.1:p.Leu320=