Canonical Allele Identifier: CA347491994

Gene: GGCX

Linked Data

• gnomAD v4: 2-85558931-G-T
• MyVariant Identifiers: chr2:g.85786054G>T (hg19) ; chr2:g.85558931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558931G>T , CM000664.2:g.85558931G>T	GRCh38
NC_000002.11:g.85786054G>T , CM000664.1:g.85786054G>T	GRCh37
NC_000002.10:g.85639565G>T	NCBI36
NG_011811.2:g.7604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.145C>A
ENST00000482662.2:n.411+15C>A
ENST00000496962.2:c.359C>A	ENSP00000508856.1:p.Thr120Asn
ENST00000685865.1:n.451C>A
ENST00000687250.1:n.462C>A
ENST00000687995.1:n.400C>A
ENST00000688205.1:c.359C>A	ENSP00000509673.1:p.Thr120Asn
ENST00000688788.1:n.451C>A
ENST00000689276.1:c.344+15C>A	ENSP00000510012.1:n.344+15C>A
ENST00000689576.1:c.359C>A	ENSP00000508712.1:p.Thr120Asn
ENST00000690108.1:c.344+15C>A	ENSP00000510617.1:n.344+15C>A
ENST00000690468.1:c.173+15C>A	ENSP00000509078.1:n.173+15C>A
ENST00000690595.1:c.214+1884C>A	ENSP00000508979.1:n.214+1884C>A
ENST00000691348.1:c.188C>A	ENSP00000509369.1:p.Thr63Asn
ENST00000691410.1:c.344+15C>A	ENSP00000508479.1:n.344+15C>A
ENST00000693287.1:c.-67+2455C>A	ENSP00000510264.1:n.-67+2455C>A
ENST00000693681.1:c.188C>A	ENSP00000510789.1:p.Thr63Asn
ENST00000233838.9:c.359C>A MANE Select	ENSP00000233838.3:p.Thr120Asn
ENST00000233838.8:c.359C>A	ENSP00000233838.3:p.Thr120Asn
ENST00000421496.5:c.173+15C>A	ENSP00000400384.1:n.173+15C>A
ENST00000423570.5:c.344+15C>A	ENSP00000389426.1:n.344+15C>A
ENST00000428479.3:c.188C>A	ENSP00000390748.3:p.Thr63Asn
ENST00000430215.7:c.188C>A	ENSP00000408045.3:p.Thr63Asn
ENST00000465637.5:n.178+75C>A
ENST00000481541.1:n.253C>A
ENST00000496962.1:n.478C>A
NM_000821.5:c.359C>A	NP_000812.2:p.Thr120Asn
NM_000821.6:c.359C>A	NP_000812.2:p.Thr120Asn
NM_001142269.2:c.188C>A	NP_001135741.1:p.Thr63Asn
NM_001142269.3:c.188C>A	NP_001135741.1:p.Thr63Asn
NM_001311312.1:c.359C>A	NP_001298241.1:p.Thr120Asn
XM_005264259.3:c.359C>A	XP_005264316.1:p.Thr120Asn
XM_011532764.1:c.-300C>A	XP_011531066.1:n.-300C>A
XM_011532765.1:c.-300C>A	XP_011531067.1:n.-300C>A
XR_939677.1:n.424C>A
XM_005264259.5:c.359C>A	XP_005264316.1:p.Thr120Asn
XM_011532764.3:c.-300C>A	XP_011531066.1:n.-300C>A
XM_011532765.3:c.-300C>A	XP_011531067.1:n.-300C>A
XM_017003803.2:c.188C>A	XP_016859292.1:p.Thr63Asn
XR_001738703.2:n.424C>A
NM_000821.7:c.359C>A MANE Select	NP_000812.2:p.Thr120Asn
NM_001142269.4:c.188C>A	NP_001135741.1:p.Thr63Asn
NM_001311312.2:c.359C>A	NP_001298241.1:p.Thr120Asn