Canonical Allele Identifier: CA347487299

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780363G>A (hg19) ; chr2:g.85553240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553240G>A , CM000664.2:g.85553240G>A	GRCh38
NC_000002.11:g.85780363G>A , CM000664.1:g.85780363G>A	GRCh37
NC_000002.10:g.85633874G>A	NCBI36
NG_011811.2:g.13295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5191C>T
ENST00000482662.2:n.3598C>T
ENST00000685865.1:n.1550C>T
ENST00000687250.1:n.1250C>T
ENST00000687995.1:n.1499C>T
ENST00000688205.1:c.*740C>T	ENSP00000509673.1:n.*740C>T
ENST00000688788.1:n.1386C>T
ENST00000689276.1:c.1078C>T	ENSP00000510012.1:p.Leu360Phe
ENST00000689576.1:c.1147C>T	ENSP00000508712.1:p.Leu383Phe
ENST00000690108.1:c.*803C>T	ENSP00000510617.1:n.*803C>T
ENST00000690468.1:c.868C>T	ENSP00000509078.1:p.Leu290Phe
ENST00000690595.1:c.472C>T	ENSP00000508979.1:p.Leu158Phe
ENST00000691348.1:c.976C>T	ENSP00000509369.1:p.Leu326Phe
ENST00000691410.1:c.*724C>T	ENSP00000508479.1:n.*724C>T
ENST00000693287.1:c.463C>T	ENSP00000510264.1:p.Leu155Phe
ENST00000693681.1:c.460C>T	ENSP00000510789.1:p.Leu154Phe
ENST00000233838.9:c.1147C>T MANE Select	ENSP00000233838.3:p.Leu383Phe
ENST00000233838.8:c.1147C>T	ENSP00000233838.3:p.Leu383Phe
ENST00000430215.7:c.976C>T	ENSP00000408045.3:p.Leu326Phe
ENST00000465637.5:n.179-5236C>T
ENST00000473665.1:n.640C>T
ENST00000482662.1:n.564C>T
NM_000821.5:c.1147C>T	NP_000812.2:p.Leu383Phe
NM_000821.6:c.1147C>T	NP_000812.2:p.Leu383Phe
NM_001142269.2:c.976C>T	NP_001135741.1:p.Leu326Phe
NM_001142269.3:c.976C>T	NP_001135741.1:p.Leu326Phe
XM_005264259.3:c.1147C>T	XP_005264316.1:p.Leu383Phe
XM_011532764.1:c.325C>T	XP_011531066.1:p.Leu109Phe
XM_011532765.1:c.325C>T	XP_011531067.1:p.Leu109Phe
XR_939677.1:n.1212C>T
XM_005264259.5:c.1147C>T	XP_005264316.1:p.Leu383Phe
XM_011532764.3:c.325C>T	XP_011531066.1:p.Leu109Phe
XM_011532765.3:c.325C>T	XP_011531067.1:p.Leu109Phe
XM_017003803.2:c.976C>T	XP_016859292.1:p.Leu326Phe
XR_001738703.2:n.1212C>T
NM_000821.7:c.1147C>T MANE Select	NP_000812.2:p.Leu383Phe
NM_001142269.4:c.976C>T	NP_001135741.1:p.Leu326Phe