Canonical Allele Identifier: CA347486804

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780068G>T (hg19) ; chr2:g.85552945G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85552945G>T , CM000664.2:g.85552945G>T	GRCh38
NC_000002.11:g.85780068G>T , CM000664.1:g.85780068G>T	GRCh37
NC_000002.10:g.85633579G>T	NCBI36
NG_011811.2:g.13590C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5325C>A
ENST00000482662.2:n.3732C>A
ENST00000685865.1:n.1684C>A
ENST00000687250.1:n.1384C>A
ENST00000687995.1:n.1633C>A
ENST00000688205.1:c.*874C>A	ENSP00000509673.1:n.*874C>A
ENST00000688788.1:n.1520C>A
ENST00000689276.1:c.1212C>A	ENSP00000510012.1:p.Asn404Lys
ENST00000689576.1:c.1281C>A	ENSP00000508712.1:p.Asn427Lys
ENST00000690108.1:c.*937C>A	ENSP00000510617.1:n.*937C>A
ENST00000690468.1:c.1002C>A	ENSP00000509078.1:p.Asn334Lys
ENST00000690595.1:c.606C>A	ENSP00000508979.1:p.Asn202Lys
ENST00000691348.1:c.1110C>A	ENSP00000509369.1:p.Asn370Lys
ENST00000691410.1:c.*858C>A	ENSP00000508479.1:n.*858C>A
ENST00000693287.1:c.597C>A	ENSP00000510264.1:p.Asn199Lys
ENST00000693681.1:c.594C>A	ENSP00000510789.1:p.Asn198Lys
ENST00000233838.9:c.1281C>A MANE Select	ENSP00000233838.3:p.Asn427Lys
ENST00000233838.8:c.1281C>A	ENSP00000233838.3:p.Asn427Lys
ENST00000430215.7:c.1110C>A	ENSP00000408045.3:p.Asn370Lys
ENST00000465637.5:n.179-4941C>A
ENST00000473665.1:n.774C>A
ENST00000482662.1:n.698C>A
NM_000821.5:c.1281C>A	NP_000812.2:p.Asn427Lys
NM_000821.6:c.1281C>A	NP_000812.2:p.Asn427Lys
NM_001142269.2:c.1110C>A	NP_001135741.1:p.Asn370Lys
NM_001142269.3:c.1110C>A	NP_001135741.1:p.Asn370Lys
XM_005264259.3:c.1281C>A	XP_005264316.1:p.Asn427Lys
XM_011532764.1:c.459C>A	XP_011531066.1:p.Asn153Lys
XM_011532765.1:c.459C>A	XP_011531067.1:p.Asn153Lys
XR_939677.1:n.1346C>A
XM_005264259.5:c.1281C>A	XP_005264316.1:p.Asn427Lys
XM_011532764.3:c.459C>A	XP_011531066.1:p.Asn153Lys
XM_011532765.3:c.459C>A	XP_011531067.1:p.Asn153Lys
XM_017003803.2:c.1110C>A	XP_016859292.1:p.Asn370Lys
XR_001738703.2:n.1346C>A
NM_000821.7:c.1281C>A MANE Select	NP_000812.2:p.Asn427Lys
NM_001142269.4:c.1110C>A	NP_001135741.1:p.Asn370Lys