Canonical Allele Identifier: CA347487282

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553234-G-T
• MyVariant Identifiers: chr2:g.85780357G>T (hg19) ; chr2:g.85553234G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553234G>T , CM000664.2:g.85553234G>T	GRCh38
NC_000002.11:g.85780357G>T , CM000664.1:g.85780357G>T	GRCh37
NC_000002.10:g.85633868G>T	NCBI36
NG_011811.2:g.13301C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5197C>A
ENST00000482662.2:n.3604C>A
ENST00000685865.1:n.1556C>A
ENST00000687250.1:n.1256C>A
ENST00000687995.1:n.1505C>A
ENST00000688205.1:c.*746C>A	ENSP00000509673.1:n.*746C>A
ENST00000688788.1:n.1392C>A
ENST00000689276.1:c.1084C>A	ENSP00000510012.1:p.Gln362Lys
ENST00000689576.1:c.1153C>A	ENSP00000508712.1:p.Gln385Lys
ENST00000690108.1:c.*809C>A	ENSP00000510617.1:n.*809C>A
ENST00000690468.1:c.874C>A	ENSP00000509078.1:p.Gln292Lys
ENST00000690595.1:c.478C>A	ENSP00000508979.1:p.Gln160Lys
ENST00000691348.1:c.982C>A	ENSP00000509369.1:p.Gln328Lys
ENST00000691410.1:c.*730C>A	ENSP00000508479.1:n.*730C>A
ENST00000693287.1:c.469C>A	ENSP00000510264.1:p.Gln157Lys
ENST00000693681.1:c.466C>A	ENSP00000510789.1:p.Gln156Lys
ENST00000233838.9:c.1153C>A MANE Select	ENSP00000233838.3:p.Gln385Lys
ENST00000233838.8:c.1153C>A	ENSP00000233838.3:p.Gln385Lys
ENST00000430215.7:c.982C>A	ENSP00000408045.3:p.Gln328Lys
ENST00000465637.5:n.179-5230C>A
ENST00000473665.1:n.646C>A
ENST00000482662.1:n.570C>A
NM_000821.5:c.1153C>A	NP_000812.2:p.Gln385Lys
NM_000821.6:c.1153C>A	NP_000812.2:p.Gln385Lys
NM_001142269.2:c.982C>A	NP_001135741.1:p.Gln328Lys
NM_001142269.3:c.982C>A	NP_001135741.1:p.Gln328Lys
XM_005264259.3:c.1153C>A	XP_005264316.1:p.Gln385Lys
XM_011532764.1:c.331C>A	XP_011531066.1:p.Gln111Lys
XM_011532765.1:c.331C>A	XP_011531067.1:p.Gln111Lys
XR_939677.1:n.1218C>A
XM_005264259.5:c.1153C>A	XP_005264316.1:p.Gln385Lys
XM_011532764.3:c.331C>A	XP_011531066.1:p.Gln111Lys
XM_011532765.3:c.331C>A	XP_011531067.1:p.Gln111Lys
XM_017003803.2:c.982C>A	XP_016859292.1:p.Gln328Lys
XR_001738703.2:n.1218C>A
NM_000821.7:c.1153C>A MANE Select	NP_000812.2:p.Gln385Lys
NM_001142269.4:c.982C>A	NP_001135741.1:p.Gln328Lys