Canonical Allele Identifier: CA51736570

Gene: GGCX

Linked Data

• dbSNP Id: rs773437736
• gnomAD v3: 2-85553236-G-A
• gnomAD v4: 2-85553236-G-A
• MyVariant Identifiers: chr2:g.85780359G>A (hg19) ; chr2:g.85553236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553236G>A , CM000664.2:g.85553236G>A	GRCh38
NC_000002.11:g.85780359G>A , CM000664.1:g.85780359G>A	GRCh37
NC_000002.10:g.85633870G>A	NCBI36
NG_011811.2:g.13299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5195C>T
ENST00000482662.2:n.3602C>T
ENST00000685865.1:n.1554C>T
ENST00000687250.1:n.1254C>T
ENST00000687995.1:n.1503C>T
ENST00000688205.1:c.*744C>T	ENSP00000509673.1:n.*744C>T
ENST00000688788.1:n.1390C>T
ENST00000689276.1:c.1082C>T	ENSP00000510012.1:p.Thr361Ile
ENST00000689576.1:c.1151C>T	ENSP00000508712.1:p.Thr384Ile
ENST00000690108.1:c.*807C>T	ENSP00000510617.1:n.*807C>T
ENST00000690468.1:c.872C>T	ENSP00000509078.1:p.Thr291Ile
ENST00000690595.1:c.476C>T	ENSP00000508979.1:p.Thr159Ile
ENST00000691348.1:c.980C>T	ENSP00000509369.1:p.Thr327Ile
ENST00000691410.1:c.*728C>T	ENSP00000508479.1:n.*728C>T
ENST00000693287.1:c.467C>T	ENSP00000510264.1:p.Thr156Ile
ENST00000693681.1:c.464C>T	ENSP00000510789.1:p.Thr155Ile
ENST00000233838.9:c.1151C>T MANE Select	ENSP00000233838.3:p.Thr384Ile
ENST00000233838.8:c.1151C>T	ENSP00000233838.3:p.Thr384Ile
ENST00000430215.7:c.980C>T	ENSP00000408045.3:p.Thr327Ile
ENST00000465637.5:n.179-5232C>T
ENST00000473665.1:n.644C>T
ENST00000482662.1:n.568C>T
NM_000821.5:c.1151C>T	NP_000812.2:p.Thr384Ile
NM_000821.6:c.1151C>T	NP_000812.2:p.Thr384Ile
NM_001142269.2:c.980C>T	NP_001135741.1:p.Thr327Ile
NM_001142269.3:c.980C>T	NP_001135741.1:p.Thr327Ile
XM_005264259.3:c.1151C>T	XP_005264316.1:p.Thr384Ile
XM_011532764.1:c.329C>T	XP_011531066.1:p.Thr110Ile
XM_011532765.1:c.329C>T	XP_011531067.1:p.Thr110Ile
XR_939677.1:n.1216C>T
XM_005264259.5:c.1151C>T	XP_005264316.1:p.Thr384Ile
XM_011532764.3:c.329C>T	XP_011531066.1:p.Thr110Ile
XM_011532765.3:c.329C>T	XP_011531067.1:p.Thr110Ile
XM_017003803.2:c.980C>T	XP_016859292.1:p.Thr327Ile
XR_001738703.2:n.1216C>T
NM_000821.7:c.1151C>T MANE Select	NP_000812.2:p.Thr384Ile
NM_001142269.4:c.980C>T	NP_001135741.1:p.Thr327Ile