Canonical Allele Identifier: CA347484993

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551935-A-C
• MyVariant Identifiers: chr2:g.85779058A>C (hg19) ; chr2:g.85551935A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551935A>C , CM000664.2:g.85551935A>C	GRCh38
NC_000002.11:g.85779058A>C , CM000664.1:g.85779058A>C	GRCh37
NC_000002.10:g.85632569A>C	NCBI36
NG_011811.2:g.14600T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5964T>G
ENST00000482662.2:n.4371T>G
ENST00000685865.1:n.2323T>G
ENST00000687250.1:n.2023T>G
ENST00000687995.1:n.1838T>G
ENST00000688205.1:c.*1079T>G	ENSP00000509673.1:n.*1079T>G
ENST00000688788.1:n.1725T>G
ENST00000689276.1:c.1417T>G	ENSP00000510012.1:p.Phe473Val
ENST00000689576.1:c.*105T>G	ENSP00000508712.1:n.*105T>G
ENST00000690108.1:c.*1142T>G	ENSP00000510617.1:n.*1142T>G
ENST00000690468.1:c.*38T>G	ENSP00000509078.1:n.*38T>G
ENST00000690595.1:c.811T>G	ENSP00000508979.1:p.Phe271Val
ENST00000691348.1:c.*38T>G	ENSP00000509369.1:n.*38T>G
ENST00000691410.1:c.*1063T>G	ENSP00000508479.1:n.*1063T>G
ENST00000693287.1:c.802T>G	ENSP00000510264.1:p.Phe268Val
ENST00000693681.1:c.799T>G	ENSP00000510789.1:p.Phe267Val
ENST00000233838.9:c.1486T>G MANE Select	ENSP00000233838.3:p.Phe496Val
ENST00000233838.8:c.1486T>G	ENSP00000233838.3:p.Phe496Val
ENST00000430215.7:c.1315T>G	ENSP00000408045.3:p.Phe439Val
ENST00000465637.5:n.179-3931T>G
NM_000821.5:c.1486T>G	NP_000812.2:p.Phe496Val
NM_000821.6:c.1486T>G	NP_000812.2:p.Phe496Val
NM_001142269.2:c.1315T>G	NP_001135741.1:p.Phe439Val
NM_001142269.3:c.1315T>G	NP_001135741.1:p.Phe439Val
XM_005264259.3:c.1486T>G	XP_005264316.1:p.Phe496Val
XM_011532764.1:c.664T>G	XP_011531066.1:p.Phe222Val
XM_011532765.1:c.664T>G	XP_011531067.1:p.Phe222Val
XR_939677.1:n.1399T>G
XM_005264259.5:c.1486T>G	XP_005264316.1:p.Phe496Val
XM_011532764.3:c.664T>G	XP_011531066.1:p.Phe222Val
XM_011532765.3:c.664T>G	XP_011531067.1:p.Phe222Val
XM_017003803.2:c.1315T>G	XP_016859292.1:p.Phe439Val
XR_001738703.2:n.1399T>G
NM_000821.7:c.1486T>G MANE Select	NP_000812.2:p.Phe496Val
NM_001142269.4:c.1315T>G	NP_001135741.1:p.Phe439Val