Canonical Allele Identifier: CA347487054

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780151C>T (hg19) ; chr2:g.85553028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553028C>T , CM000664.2:g.85553028C>T	GRCh38
NC_000002.11:g.85780151C>T , CM000664.1:g.85780151C>T	GRCh37
NC_000002.10:g.85633662C>T	NCBI36
NG_011811.2:g.13507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5242G>A
ENST00000482662.2:n.3649G>A
ENST00000685865.1:n.1601G>A
ENST00000687250.1:n.1301G>A
ENST00000687995.1:n.1550G>A
ENST00000688205.1:c.*791G>A	ENSP00000509673.1:n.*791G>A
ENST00000688788.1:n.1437G>A
ENST00000689276.1:c.1129G>A	ENSP00000510012.1:p.Asp377Asn
ENST00000689576.1:c.1198G>A	ENSP00000508712.1:p.Asp400Asn
ENST00000690108.1:c.*854G>A	ENSP00000510617.1:n.*854G>A
ENST00000690468.1:c.919G>A	ENSP00000509078.1:p.Asp307Asn
ENST00000690595.1:c.523G>A	ENSP00000508979.1:p.Asp175Asn
ENST00000691348.1:c.1027G>A	ENSP00000509369.1:p.Asp343Asn
ENST00000691410.1:c.*775G>A	ENSP00000508479.1:n.*775G>A
ENST00000693287.1:c.514G>A	ENSP00000510264.1:p.Asp172Asn
ENST00000693681.1:c.511G>A	ENSP00000510789.1:p.Asp171Asn
ENST00000233838.9:c.1198G>A MANE Select	ENSP00000233838.3:p.Asp400Asn
ENST00000233838.8:c.1198G>A	ENSP00000233838.3:p.Asp400Asn
ENST00000430215.7:c.1027G>A	ENSP00000408045.3:p.Asp343Asn
ENST00000465637.5:n.179-5024G>A
ENST00000473665.1:n.691G>A
ENST00000482662.1:n.615G>A
NM_000821.5:c.1198G>A	NP_000812.2:p.Asp400Asn
NM_000821.6:c.1198G>A	NP_000812.2:p.Asp400Asn
NM_001142269.2:c.1027G>A	NP_001135741.1:p.Asp343Asn
NM_001142269.3:c.1027G>A	NP_001135741.1:p.Asp343Asn
XM_005264259.3:c.1198G>A	XP_005264316.1:p.Asp400Asn
XM_011532764.1:c.376G>A	XP_011531066.1:p.Asp126Asn
XM_011532765.1:c.376G>A	XP_011531067.1:p.Asp126Asn
XR_939677.1:n.1263G>A
XM_005264259.5:c.1198G>A	XP_005264316.1:p.Asp400Asn
XM_011532764.3:c.376G>A	XP_011531066.1:p.Asp126Asn
XM_011532765.3:c.376G>A	XP_011531067.1:p.Asp126Asn
XM_017003803.2:c.1027G>A	XP_016859292.1:p.Asp343Asn
XR_001738703.2:n.1263G>A
NM_000821.7:c.1198G>A MANE Select	NP_000812.2:p.Asp400Asn
NM_001142269.4:c.1027G>A	NP_001135741.1:p.Asp343Asn