Canonical Allele Identifier: CA347484992

Gene: GGCX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5964T>C
ENST00000482662.2:n.4371T>C
ENST00000685865.1:n.2323T>C
ENST00000687250.1:n.2023T>C
ENST00000687995.1:n.1838T>C
ENST00000688205.1:c.*1079T>C	ENSP00000509673.1:n.*1079T>C
ENST00000688788.1:n.1725T>C
ENST00000689276.1:c.1417T>C	ENSP00000510012.1:p.Phe473Leu
ENST00000689576.1:c.*105T>C	ENSP00000508712.1:n.*105T>C
ENST00000690108.1:c.*1142T>C	ENSP00000510617.1:n.*1142T>C
ENST00000690468.1:c.*38T>C	ENSP00000509078.1:n.*38T>C
ENST00000690595.1:c.811T>C	ENSP00000508979.1:p.Phe271Leu
ENST00000691348.1:c.*38T>C	ENSP00000509369.1:n.*38T>C
ENST00000691410.1:c.*1063T>C	ENSP00000508479.1:n.*1063T>C
ENST00000693287.1:c.802T>C	ENSP00000510264.1:p.Phe268Leu
ENST00000693681.1:c.799T>C	ENSP00000510789.1:p.Phe267Leu
ENST00000233838.9:c.1486T>C MANE Select	ENSP00000233838.3:p.Phe496Leu
ENST00000233838.8:c.1486T>C	ENSP00000233838.3:p.Phe496Leu
ENST00000430215.7:c.1315T>C	ENSP00000408045.3:p.Phe439Leu
ENST00000465637.5:n.179-3931T>C
NM_000821.5:c.1486T>C	NP_000812.2:p.Phe496Leu
NM_000821.6:c.1486T>C	NP_000812.2:p.Phe496Leu
NM_001142269.2:c.1315T>C	NP_001135741.1:p.Phe439Leu
NM_001142269.3:c.1315T>C	NP_001135741.1:p.Phe439Leu
XM_005264259.3:c.1486T>C	XP_005264316.1:p.Phe496Leu
XM_011532764.1:c.664T>C	XP_011531066.1:p.Phe222Leu
XM_011532765.1:c.664T>C	XP_011531067.1:p.Phe222Leu
XR_939677.1:n.1399T>C
XM_005264259.5:c.1486T>C	XP_005264316.1:p.Phe496Leu
XM_011532764.3:c.664T>C	XP_011531066.1:p.Phe222Leu
XM_011532765.3:c.664T>C	XP_011531067.1:p.Phe222Leu
XM_017003803.2:c.1315T>C	XP_016859292.1:p.Phe439Leu
XR_001738703.2:n.1399T>C
NM_000821.7:c.1486T>C MANE Select	NP_000812.2:p.Phe496Leu
NM_001142269.4:c.1315T>C	NP_001135741.1:p.Phe439Leu