Canonical Allele Identifier: CA347487353

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780375A>G (hg19) ; chr2:g.85553252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553252A>G , CM000664.2:g.85553252A>G	GRCh38
NC_000002.11:g.85780375A>G , CM000664.1:g.85780375A>G	GRCh37
NC_000002.10:g.85633886A>G	NCBI36
NG_011811.2:g.13283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5179T>C
ENST00000482662.2:n.3586T>C
ENST00000685865.1:n.1538T>C
ENST00000687250.1:n.1238T>C
ENST00000687995.1:n.1487T>C
ENST00000688205.1:c.*728T>C	ENSP00000509673.1:n.*728T>C
ENST00000688788.1:n.1374T>C
ENST00000689276.1:c.1066T>C	ENSP00000510012.1:p.Tyr356His
ENST00000689576.1:c.1135T>C	ENSP00000508712.1:p.Tyr379His
ENST00000690108.1:c.*791T>C	ENSP00000510617.1:n.*791T>C
ENST00000690468.1:c.856T>C	ENSP00000509078.1:p.Tyr286His
ENST00000690595.1:c.460T>C	ENSP00000508979.1:p.Tyr154His
ENST00000691348.1:c.964T>C	ENSP00000509369.1:p.Tyr322His
ENST00000691410.1:c.*712T>C	ENSP00000508479.1:n.*712T>C
ENST00000693287.1:c.451T>C	ENSP00000510264.1:p.Tyr151His
ENST00000693681.1:c.448T>C	ENSP00000510789.1:p.Tyr150His
ENST00000233838.9:c.1135T>C MANE Select	ENSP00000233838.3:p.Tyr379His
ENST00000233838.8:c.1135T>C	ENSP00000233838.3:p.Tyr379His
ENST00000430215.7:c.964T>C	ENSP00000408045.3:p.Tyr322His
ENST00000465637.5:n.179-5248T>C
ENST00000473665.1:n.628T>C
ENST00000482662.1:n.552T>C
NM_000821.5:c.1135T>C	NP_000812.2:p.Tyr379His
NM_000821.6:c.1135T>C	NP_000812.2:p.Tyr379His
NM_001142269.2:c.964T>C	NP_001135741.1:p.Tyr322His
NM_001142269.3:c.964T>C	NP_001135741.1:p.Tyr322His
XM_005264259.3:c.1135T>C	XP_005264316.1:p.Tyr379His
XM_011532764.1:c.313T>C	XP_011531066.1:p.Tyr105His
XM_011532765.1:c.313T>C	XP_011531067.1:p.Tyr105His
XR_939677.1:n.1200T>C
XM_005264259.5:c.1135T>C	XP_005264316.1:p.Tyr379His
XM_011532764.3:c.313T>C	XP_011531066.1:p.Tyr105His
XM_011532765.3:c.313T>C	XP_011531067.1:p.Tyr105His
XM_017003803.2:c.964T>C	XP_016859292.1:p.Tyr322His
XR_001738703.2:n.1200T>C
NM_000821.7:c.1135T>C MANE Select	NP_000812.2:p.Tyr379His
NM_001142269.4:c.964T>C	NP_001135741.1:p.Tyr322His