Canonical Allele Identifier: CA347487168

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780180C>A (hg19) ; chr2:g.85553057C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553057C>A , CM000664.2:g.85553057C>A	GRCh38
NC_000002.11:g.85780180C>A , CM000664.1:g.85780180C>A	GRCh37
NC_000002.10:g.85633691C>A	NCBI36
NG_011811.2:g.13478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5213G>T
ENST00000482662.2:n.3620G>T
ENST00000685865.1:n.1572G>T
ENST00000687250.1:n.1272G>T
ENST00000687995.1:n.1521G>T
ENST00000688205.1:c.*762G>T	ENSP00000509673.1:n.*762G>T
ENST00000688788.1:n.1408G>T
ENST00000689276.1:c.1100G>T	ENSP00000510012.1:p.Trp367Leu
ENST00000689576.1:c.1169G>T	ENSP00000508712.1:p.Trp390Leu
ENST00000690108.1:c.*825G>T	ENSP00000510617.1:n.*825G>T
ENST00000690468.1:c.890G>T	ENSP00000509078.1:p.Trp297Leu
ENST00000690595.1:c.494G>T	ENSP00000508979.1:p.Trp165Leu
ENST00000691348.1:c.998G>T	ENSP00000509369.1:p.Trp333Leu
ENST00000691410.1:c.*746G>T	ENSP00000508479.1:n.*746G>T
ENST00000693287.1:c.485G>T	ENSP00000510264.1:p.Trp162Leu
ENST00000693681.1:c.482G>T	ENSP00000510789.1:p.Trp161Leu
ENST00000233838.9:c.1169G>T MANE Select	ENSP00000233838.3:p.Trp390Leu
ENST00000233838.8:c.1169G>T	ENSP00000233838.3:p.Trp390Leu
ENST00000430215.7:c.998G>T	ENSP00000408045.3:p.Trp333Leu
ENST00000465637.5:n.179-5053G>T
ENST00000473665.1:n.662G>T
ENST00000482662.1:n.586G>T
NM_000821.5:c.1169G>T	NP_000812.2:p.Trp390Leu
NM_000821.6:c.1169G>T	NP_000812.2:p.Trp390Leu
NM_001142269.2:c.998G>T	NP_001135741.1:p.Trp333Leu
NM_001142269.3:c.998G>T	NP_001135741.1:p.Trp333Leu
XM_005264259.3:c.1169G>T	XP_005264316.1:p.Trp390Leu
XM_011532764.1:c.347G>T	XP_011531066.1:p.Trp116Leu
XM_011532765.1:c.347G>T	XP_011531067.1:p.Trp116Leu
XR_939677.1:n.1234G>T
XM_005264259.5:c.1169G>T	XP_005264316.1:p.Trp390Leu
XM_011532764.3:c.347G>T	XP_011531066.1:p.Trp116Leu
XM_011532765.3:c.347G>T	XP_011531067.1:p.Trp116Leu
XM_017003803.2:c.998G>T	XP_016859292.1:p.Trp333Leu
XR_001738703.2:n.1234G>T
NM_000821.7:c.1169G>T MANE Select	NP_000812.2:p.Trp390Leu
NM_001142269.4:c.998G>T	NP_001135741.1:p.Trp333Leu