Canonical Allele Identifier: CA347484754

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551829-A-G
• MyVariant Identifiers: chr2:g.85778952A>G (hg19) ; chr2:g.85551829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551829A>G , CM000664.2:g.85551829A>G	GRCh38
NC_000002.11:g.85778952A>G , CM000664.1:g.85778952A>G	GRCh37
NC_000002.10:g.85632463A>G	NCBI36
NG_011811.2:g.14706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6070T>C
ENST00000482662.2:n.4477T>C
ENST00000685865.1:n.2429T>C
ENST00000687250.1:n.2129T>C
ENST00000687995.1:n.1944T>C
ENST00000688205.1:c.*1185T>C	ENSP00000509673.1:n.*1185T>C
ENST00000688788.1:n.1831T>C
ENST00000689276.1:c.1523T>C	ENSP00000510012.1:p.Phe508Ser
ENST00000689576.1:c.*211T>C	ENSP00000508712.1:n.*211T>C
ENST00000690108.1:c.*1248T>C	ENSP00000510617.1:n.*1248T>C
ENST00000690468.1:c.*144T>C	ENSP00000509078.1:n.*144T>C
ENST00000690595.1:c.917T>C	ENSP00000508979.1:p.Phe306Ser
ENST00000691348.1:c.*144T>C	ENSP00000509369.1:n.*144T>C
ENST00000691410.1:c.*1169T>C	ENSP00000508479.1:n.*1169T>C
ENST00000693287.1:c.908T>C	ENSP00000510264.1:p.Phe303Ser
ENST00000693681.1:c.905T>C	ENSP00000510789.1:p.Phe302Ser
ENST00000233838.9:c.1592T>C MANE Select	ENSP00000233838.3:p.Phe531Ser
ENST00000233838.8:c.1592T>C	ENSP00000233838.3:p.Phe531Ser
ENST00000430215.7:c.1421T>C	ENSP00000408045.3:p.Phe474Ser
ENST00000465637.5:n.179-3825T>C
NM_000821.5:c.1592T>C	NP_000812.2:p.Phe531Ser
NM_000821.6:c.1592T>C	NP_000812.2:p.Phe531Ser
NM_001142269.2:c.1421T>C	NP_001135741.1:p.Phe474Ser
NM_001142269.3:c.1421T>C	NP_001135741.1:p.Phe474Ser
XM_005264259.3:c.1592T>C	XP_005264316.1:p.Phe531Ser
XM_011532764.1:c.770T>C	XP_011531066.1:p.Phe257Ser
XM_011532765.1:c.770T>C	XP_011531067.1:p.Phe257Ser
XR_939677.1:n.1505T>C
XM_005264259.5:c.1592T>C	XP_005264316.1:p.Phe531Ser
XM_011532764.3:c.770T>C	XP_011531066.1:p.Phe257Ser
XM_011532765.3:c.770T>C	XP_011531067.1:p.Phe257Ser
XM_017003803.2:c.1421T>C	XP_016859292.1:p.Phe474Ser
XR_001738703.2:n.1505T>C
NM_000821.7:c.1592T>C MANE Select	NP_000812.2:p.Phe531Ser
NM_001142269.4:c.1421T>C	NP_001135741.1:p.Phe474Ser