Canonical Allele Identifier: CA347487093

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780160A>G (hg19) ; chr2:g.85553037A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553037A>G , CM000664.2:g.85553037A>G	GRCh38
NC_000002.11:g.85780160A>G , CM000664.1:g.85780160A>G	GRCh37
NC_000002.10:g.85633671A>G	NCBI36
NG_011811.2:g.13498T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5233T>C
ENST00000482662.2:n.3640T>C
ENST00000685865.1:n.1592T>C
ENST00000687250.1:n.1292T>C
ENST00000687995.1:n.1541T>C
ENST00000688205.1:c.*782T>C	ENSP00000509673.1:n.*782T>C
ENST00000688788.1:n.1428T>C
ENST00000689276.1:c.1120T>C	ENSP00000510012.1:p.Tyr374His
ENST00000689576.1:c.1189T>C	ENSP00000508712.1:p.Tyr397His
ENST00000690108.1:c.*845T>C	ENSP00000510617.1:n.*845T>C
ENST00000690468.1:c.910T>C	ENSP00000509078.1:p.Tyr304His
ENST00000690595.1:c.514T>C	ENSP00000508979.1:p.Tyr172His
ENST00000691348.1:c.1018T>C	ENSP00000509369.1:p.Tyr340His
ENST00000691410.1:c.*766T>C	ENSP00000508479.1:n.*766T>C
ENST00000693287.1:c.505T>C	ENSP00000510264.1:p.Tyr169His
ENST00000693681.1:c.502T>C	ENSP00000510789.1:p.Tyr168His
ENST00000233838.9:c.1189T>C MANE Select	ENSP00000233838.3:p.Tyr397His
ENST00000233838.8:c.1189T>C	ENSP00000233838.3:p.Tyr397His
ENST00000430215.7:c.1018T>C	ENSP00000408045.3:p.Tyr340His
ENST00000465637.5:n.179-5033T>C
ENST00000473665.1:n.682T>C
ENST00000482662.1:n.606T>C
NM_000821.5:c.1189T>C	NP_000812.2:p.Tyr397His
NM_000821.6:c.1189T>C	NP_000812.2:p.Tyr397His
NM_001142269.2:c.1018T>C	NP_001135741.1:p.Tyr340His
NM_001142269.3:c.1018T>C	NP_001135741.1:p.Tyr340His
XM_005264259.3:c.1189T>C	XP_005264316.1:p.Tyr397His
XM_011532764.1:c.367T>C	XP_011531066.1:p.Tyr123His
XM_011532765.1:c.367T>C	XP_011531067.1:p.Tyr123His
XR_939677.1:n.1254T>C
XM_005264259.5:c.1189T>C	XP_005264316.1:p.Tyr397His
XM_011532764.3:c.367T>C	XP_011531066.1:p.Tyr123His
XM_011532765.3:c.367T>C	XP_011531067.1:p.Tyr123His
XM_017003803.2:c.1018T>C	XP_016859292.1:p.Tyr340His
XR_001738703.2:n.1254T>C
NM_000821.7:c.1189T>C MANE Select	NP_000812.2:p.Tyr397His
NM_001142269.4:c.1018T>C	NP_001135741.1:p.Tyr340His