Canonical Allele Identifier: CA347487112

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780165T>A (hg19) ; chr2:g.85553042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553042T>A , CM000664.2:g.85553042T>A	GRCh38
NC_000002.11:g.85780165T>A , CM000664.1:g.85780165T>A	GRCh37
NC_000002.10:g.85633676T>A	NCBI36
NG_011811.2:g.13493A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5228A>T
ENST00000482662.2:n.3635A>T
ENST00000685865.1:n.1587A>T
ENST00000687250.1:n.1287A>T
ENST00000687995.1:n.1536A>T
ENST00000688205.1:c.*777A>T	ENSP00000509673.1:n.*777A>T
ENST00000688788.1:n.1423A>T
ENST00000689276.1:c.1115A>T	ENSP00000510012.1:p.Tyr372Phe
ENST00000689576.1:c.1184A>T	ENSP00000508712.1:p.Tyr395Phe
ENST00000690108.1:c.*840A>T	ENSP00000510617.1:n.*840A>T
ENST00000690468.1:c.905A>T	ENSP00000509078.1:p.Tyr302Phe
ENST00000690595.1:c.509A>T	ENSP00000508979.1:p.Tyr170Phe
ENST00000691348.1:c.1013A>T	ENSP00000509369.1:p.Tyr338Phe
ENST00000691410.1:c.*761A>T	ENSP00000508479.1:n.*761A>T
ENST00000693287.1:c.500A>T	ENSP00000510264.1:p.Tyr167Phe
ENST00000693681.1:c.497A>T	ENSP00000510789.1:p.Tyr166Phe
ENST00000233838.9:c.1184A>T MANE Select	ENSP00000233838.3:p.Tyr395Phe
ENST00000233838.8:c.1184A>T	ENSP00000233838.3:p.Tyr395Phe
ENST00000430215.7:c.1013A>T	ENSP00000408045.3:p.Tyr338Phe
ENST00000465637.5:n.179-5038A>T
ENST00000473665.1:n.677A>T
ENST00000482662.1:n.601A>T
NM_000821.5:c.1184A>T	NP_000812.2:p.Tyr395Phe
NM_000821.6:c.1184A>T	NP_000812.2:p.Tyr395Phe
NM_001142269.2:c.1013A>T	NP_001135741.1:p.Tyr338Phe
NM_001142269.3:c.1013A>T	NP_001135741.1:p.Tyr338Phe
XM_005264259.3:c.1184A>T	XP_005264316.1:p.Tyr395Phe
XM_011532764.1:c.362A>T	XP_011531066.1:p.Tyr121Phe
XM_011532765.1:c.362A>T	XP_011531067.1:p.Tyr121Phe
XR_939677.1:n.1249A>T
XM_005264259.5:c.1184A>T	XP_005264316.1:p.Tyr395Phe
XM_011532764.3:c.362A>T	XP_011531066.1:p.Tyr121Phe
XM_011532765.3:c.362A>T	XP_011531067.1:p.Tyr121Phe
XM_017003803.2:c.1013A>T	XP_016859292.1:p.Tyr338Phe
XR_001738703.2:n.1249A>T
NM_000821.7:c.1184A>T MANE Select	NP_000812.2:p.Tyr395Phe
NM_001142269.4:c.1013A>T	NP_001135741.1:p.Tyr338Phe