Canonical Allele Identifier: CA347484922

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779026C>A (hg19) ; chr2:g.85551903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551903C>A , CM000664.2:g.85551903C>A	GRCh38
NC_000002.11:g.85779026C>A , CM000664.1:g.85779026C>A	GRCh37
NC_000002.10:g.85632537C>A	NCBI36
NG_011811.2:g.14632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5996G>T
ENST00000482662.2:n.4403G>T
ENST00000685865.1:n.2355G>T
ENST00000687250.1:n.2055G>T
ENST00000687995.1:n.1870G>T
ENST00000688205.1:c.*1111G>T	ENSP00000509673.1:n.*1111G>T
ENST00000688788.1:n.1757G>T
ENST00000689276.1:c.1449G>T	ENSP00000510012.1:p.Leu483Phe
ENST00000689576.1:c.*137G>T	ENSP00000508712.1:n.*137G>T
ENST00000690108.1:c.*1174G>T	ENSP00000510617.1:n.*1174G>T
ENST00000690468.1:c.*70G>T	ENSP00000509078.1:n.*70G>T
ENST00000690595.1:c.843G>T	ENSP00000508979.1:p.Leu281Phe
ENST00000691348.1:c.*70G>T	ENSP00000509369.1:n.*70G>T
ENST00000691410.1:c.*1095G>T	ENSP00000508479.1:n.*1095G>T
ENST00000693287.1:c.834G>T	ENSP00000510264.1:p.Leu278Phe
ENST00000693681.1:c.831G>T	ENSP00000510789.1:p.Leu277Phe
ENST00000233838.9:c.1518G>T MANE Select	ENSP00000233838.3:p.Leu506Phe
ENST00000233838.8:c.1518G>T	ENSP00000233838.3:p.Leu506Phe
ENST00000430215.7:c.1347G>T	ENSP00000408045.3:p.Leu449Phe
ENST00000465637.5:n.179-3899G>T
NM_000821.5:c.1518G>T	NP_000812.2:p.Leu506Phe
NM_000821.6:c.1518G>T	NP_000812.2:p.Leu506Phe
NM_001142269.2:c.1347G>T	NP_001135741.1:p.Leu449Phe
NM_001142269.3:c.1347G>T	NP_001135741.1:p.Leu449Phe
XM_005264259.3:c.1518G>T	XP_005264316.1:p.Leu506Phe
XM_011532764.1:c.696G>T	XP_011531066.1:p.Leu232Phe
XM_011532765.1:c.696G>T	XP_011531067.1:p.Leu232Phe
XR_939677.1:n.1431G>T
XM_005264259.5:c.1518G>T	XP_005264316.1:p.Leu506Phe
XM_011532764.3:c.696G>T	XP_011531066.1:p.Leu232Phe
XM_011532765.3:c.696G>T	XP_011531067.1:p.Leu232Phe
XM_017003803.2:c.1347G>T	XP_016859292.1:p.Leu449Phe
XR_001738703.2:n.1431G>T
NM_000821.7:c.1518G>T MANE Select	NP_000812.2:p.Leu506Phe
NM_001142269.4:c.1347G>T	NP_001135741.1:p.Leu449Phe