Canonical Allele Identifier: CA427440053

Gene: GGCX

Linked Data

• dbSNP Id: rs1229148551
• gnomAD v2: 2-85780376-G-A
• gnomAD v4: 2-85553253-G-A
• MyVariant Identifiers: chr2:g.85780376G>A (hg19) ; chr2:g.85553253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553253G>A , CM000664.2:g.85553253G>A	GRCh38
NC_000002.11:g.85780376G>A , CM000664.1:g.85780376G>A	GRCh37
NC_000002.10:g.85633887G>A	NCBI36
NG_011811.2:g.13282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5178C>T
ENST00000482662.2:n.3585C>T
ENST00000685865.1:n.1537C>T
ENST00000687250.1:n.1237C>T
ENST00000687995.1:n.1486C>T
ENST00000688205.1:c.*727C>T	ENSP00000509673.1:n.*727C>T
ENST00000688788.1:n.1373C>T
ENST00000689276.1:c.1065C>T	ENSP00000510012.1:p.Pro355=
ENST00000689576.1:c.1134C>T	ENSP00000508712.1:p.Pro378=
ENST00000690108.1:c.*790C>T	ENSP00000510617.1:n.*790C>T
ENST00000690468.1:c.855C>T	ENSP00000509078.1:p.Pro285=
ENST00000690595.1:c.459C>T	ENSP00000508979.1:p.Pro153=
ENST00000691348.1:c.963C>T	ENSP00000509369.1:p.Pro321=
ENST00000691410.1:c.*711C>T	ENSP00000508479.1:n.*711C>T
ENST00000693287.1:c.450C>T	ENSP00000510264.1:p.Pro150=
ENST00000693681.1:c.447C>T	ENSP00000510789.1:p.Pro149=
ENST00000233838.9:c.1134C>T MANE Select	ENSP00000233838.3:p.Pro378=
ENST00000233838.8:c.1134C>T	ENSP00000233838.3:p.Pro378=
ENST00000430215.7:c.963C>T	ENSP00000408045.3:p.Pro321=
ENST00000465637.5:n.179-5249C>T
ENST00000473665.1:n.627C>T
ENST00000482662.1:n.551C>T
NM_000821.5:c.1134C>T	NP_000812.2:p.Pro378=
NM_000821.6:c.1134C>T	NP_000812.2:p.Pro378=
NM_001142269.2:c.963C>T	NP_001135741.1:p.Pro321=
NM_001142269.3:c.963C>T	NP_001135741.1:p.Pro321=
XM_005264259.3:c.1134C>T	XP_005264316.1:p.Pro378=
XM_011532764.1:c.312C>T	XP_011531066.1:p.Pro104=
XM_011532765.1:c.312C>T	XP_011531067.1:p.Pro104=
XR_939677.1:n.1199C>T
XM_005264259.5:c.1134C>T	XP_005264316.1:p.Pro378=
XM_011532764.3:c.312C>T	XP_011531066.1:p.Pro104=
XM_011532765.3:c.312C>T	XP_011531067.1:p.Pro104=
XM_017003803.2:c.963C>T	XP_016859292.1:p.Pro321=
XR_001738703.2:n.1199C>T
NM_000821.7:c.1134C>T MANE Select	NP_000812.2:p.Pro378=
NM_001142269.4:c.963C>T	NP_001135741.1:p.Pro321=