Canonical Allele Identifier: CA347484985

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551932-G-C
• MyVariant Identifiers: chr2:g.85779055G>C (hg19) ; chr2:g.85551932G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551932G>C , CM000664.2:g.85551932G>C	GRCh38
NC_000002.11:g.85779055G>C , CM000664.1:g.85779055G>C	GRCh37
NC_000002.10:g.85632566G>C	NCBI36
NG_011811.2:g.14603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5967C>G
ENST00000482662.2:n.4374C>G
ENST00000685865.1:n.2326C>G
ENST00000687250.1:n.2026C>G
ENST00000687995.1:n.1841C>G
ENST00000688205.1:c.*1082C>G	ENSP00000509673.1:n.*1082C>G
ENST00000688788.1:n.1728C>G
ENST00000689276.1:c.1420C>G	ENSP00000510012.1:p.Gln474Glu
ENST00000689576.1:c.*108C>G	ENSP00000508712.1:n.*108C>G
ENST00000690108.1:c.*1145C>G	ENSP00000510617.1:n.*1145C>G
ENST00000690468.1:c.*41C>G	ENSP00000509078.1:n.*41C>G
ENST00000690595.1:c.814C>G	ENSP00000508979.1:p.Gln272Glu
ENST00000691348.1:c.*41C>G	ENSP00000509369.1:n.*41C>G
ENST00000691410.1:c.*1066C>G	ENSP00000508479.1:n.*1066C>G
ENST00000693287.1:c.805C>G	ENSP00000510264.1:p.Gln269Glu
ENST00000693681.1:c.802C>G	ENSP00000510789.1:p.Gln268Glu
ENST00000233838.9:c.1489C>G MANE Select	ENSP00000233838.3:p.Gln497Glu
ENST00000233838.8:c.1489C>G	ENSP00000233838.3:p.Gln497Glu
ENST00000430215.7:c.1318C>G	ENSP00000408045.3:p.Gln440Glu
ENST00000465637.5:n.179-3928C>G
NM_000821.5:c.1489C>G	NP_000812.2:p.Gln497Glu
NM_000821.6:c.1489C>G	NP_000812.2:p.Gln497Glu
NM_001142269.2:c.1318C>G	NP_001135741.1:p.Gln440Glu
NM_001142269.3:c.1318C>G	NP_001135741.1:p.Gln440Glu
XM_005264259.3:c.1489C>G	XP_005264316.1:p.Gln497Glu
XM_011532764.1:c.667C>G	XP_011531066.1:p.Gln223Glu
XM_011532765.1:c.667C>G	XP_011531067.1:p.Gln223Glu
XR_939677.1:n.1402C>G
XM_005264259.5:c.1489C>G	XP_005264316.1:p.Gln497Glu
XM_011532764.3:c.667C>G	XP_011531066.1:p.Gln223Glu
XM_011532765.3:c.667C>G	XP_011531067.1:p.Gln223Glu
XM_017003803.2:c.1318C>G	XP_016859292.1:p.Gln440Glu
XR_001738703.2:n.1402C>G
NM_000821.7:c.1489C>G MANE Select	NP_000812.2:p.Gln497Glu
NM_001142269.4:c.1318C>G	NP_001135741.1:p.Gln440Glu