Canonical Allele Identifier: CA347487138

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780173A>C (hg19) ; chr2:g.85553050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553050A>C , CM000664.2:g.85553050A>C	GRCh38
NC_000002.11:g.85780173A>C , CM000664.1:g.85780173A>C	GRCh37
NC_000002.10:g.85633684A>C	NCBI36
NG_011811.2:g.13485T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5220T>G
ENST00000482662.2:n.3627T>G
ENST00000685865.1:n.1579T>G
ENST00000687250.1:n.1279T>G
ENST00000687995.1:n.1528T>G
ENST00000688205.1:c.*769T>G	ENSP00000509673.1:n.*769T>G
ENST00000688788.1:n.1415T>G
ENST00000689276.1:c.1107T>G	ENSP00000510012.1:p.Asn369Lys
ENST00000689576.1:c.1176T>G	ENSP00000508712.1:p.Asn392Lys
ENST00000690108.1:c.*832T>G	ENSP00000510617.1:n.*832T>G
ENST00000690468.1:c.897T>G	ENSP00000509078.1:p.Asn299Lys
ENST00000690595.1:c.501T>G	ENSP00000508979.1:p.Asn167Lys
ENST00000691348.1:c.1005T>G	ENSP00000509369.1:p.Asn335Lys
ENST00000691410.1:c.*753T>G	ENSP00000508479.1:n.*753T>G
ENST00000693287.1:c.492T>G	ENSP00000510264.1:p.Asn164Lys
ENST00000693681.1:c.489T>G	ENSP00000510789.1:p.Asn163Lys
ENST00000233838.9:c.1176T>G MANE Select	ENSP00000233838.3:p.Asn392Lys
ENST00000233838.8:c.1176T>G	ENSP00000233838.3:p.Asn392Lys
ENST00000430215.7:c.1005T>G	ENSP00000408045.3:p.Asn335Lys
ENST00000465637.5:n.179-5046T>G
ENST00000473665.1:n.669T>G
ENST00000482662.1:n.593T>G
NM_000821.5:c.1176T>G	NP_000812.2:p.Asn392Lys
NM_000821.6:c.1176T>G	NP_000812.2:p.Asn392Lys
NM_001142269.2:c.1005T>G	NP_001135741.1:p.Asn335Lys
NM_001142269.3:c.1005T>G	NP_001135741.1:p.Asn335Lys
XM_005264259.3:c.1176T>G	XP_005264316.1:p.Asn392Lys
XM_011532764.1:c.354T>G	XP_011531066.1:p.Asn118Lys
XM_011532765.1:c.354T>G	XP_011531067.1:p.Asn118Lys
XR_939677.1:n.1241T>G
XM_005264259.5:c.1176T>G	XP_005264316.1:p.Asn392Lys
XM_011532764.3:c.354T>G	XP_011531066.1:p.Asn118Lys
XM_011532765.3:c.354T>G	XP_011531067.1:p.Asn118Lys
XM_017003803.2:c.1005T>G	XP_016859292.1:p.Asn335Lys
XR_001738703.2:n.1241T>G
NM_000821.7:c.1176T>G MANE Select	NP_000812.2:p.Asn392Lys
NM_001142269.4:c.1005T>G	NP_001135741.1:p.Asn335Lys