Canonical Allele Identifier: CA347492065

Gene: GGCX

Linked Data

• gnomAD v4: 2-85558947-T-G
• MyVariant Identifiers: chr2:g.85786070T>G (hg19) ; chr2:g.85558947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558947T>G , CM000664.2:g.85558947T>G	GRCh38
NC_000002.11:g.85786070T>G , CM000664.1:g.85786070T>G	GRCh37
NC_000002.10:g.85639581T>G	NCBI36
NG_011811.2:g.7588A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.129A>C
ENST00000482662.2:n.410A>C
ENST00000496962.2:c.343A>C	ENSP00000508856.1:p.Met115Leu
ENST00000685865.1:n.435A>C
ENST00000687250.1:n.446A>C
ENST00000687995.1:n.384A>C
ENST00000688205.1:c.343A>C	ENSP00000509673.1:p.Met115Leu
ENST00000688788.1:n.435A>C
ENST00000689276.1:c.343A>C	ENSP00000510012.1:p.Ile115Leu
ENST00000689576.1:c.343A>C	ENSP00000508712.1:p.Met115Leu
ENST00000690108.1:c.343A>C	ENSP00000510617.1:p.Met115Leu
ENST00000690468.1:c.172A>C	ENSP00000509078.1:p.Met58Leu
ENST00000690595.1:c.214+1868A>C	ENSP00000508979.1:n.214+1868A>C
ENST00000691348.1:c.172A>C	ENSP00000509369.1:p.Met58Leu
ENST00000691410.1:c.343A>C	ENSP00000508479.1:p.Met115Leu
ENST00000693287.1:c.-67+2439A>C	ENSP00000510264.1:n.-67+2439A>C
ENST00000693681.1:c.172A>C	ENSP00000510789.1:p.Met58Leu
ENST00000233838.9:c.343A>C MANE Select	ENSP00000233838.3:p.Met115Leu
ENST00000233838.8:c.343A>C	ENSP00000233838.3:p.Met115Leu
ENST00000421496.5:c.172A>C	ENSP00000400384.1:p.Met58Leu
ENST00000423570.5:c.343A>C	ENSP00000389426.1:p.Met115Leu
ENST00000428479.3:c.172A>C	ENSP00000390748.3:p.Met58Leu
ENST00000430215.7:c.172A>C	ENSP00000408045.3:p.Met58Leu
ENST00000465637.5:n.178+59A>C
ENST00000481541.1:n.237A>C
ENST00000496962.1:n.462A>C
NM_000821.5:c.343A>C	NP_000812.2:p.Met115Leu
NM_000821.6:c.343A>C	NP_000812.2:p.Met115Leu
NM_001142269.2:c.172A>C	NP_001135741.1:p.Met58Leu
NM_001142269.3:c.172A>C	NP_001135741.1:p.Met58Leu
NM_001311312.1:c.343A>C	NP_001298241.1:p.Met115Leu
XM_005264259.3:c.343A>C	XP_005264316.1:p.Met115Leu
XM_011532764.1:c.-316A>C	XP_011531066.1:n.-316A>C
XM_011532765.1:c.-316A>C	XP_011531067.1:n.-316A>C
XR_939677.1:n.408A>C
XM_005264259.5:c.343A>C	XP_005264316.1:p.Met115Leu
XM_011532764.3:c.-316A>C	XP_011531066.1:n.-316A>C
XM_011532765.3:c.-316A>C	XP_011531067.1:n.-316A>C
XM_017003803.2:c.172A>C	XP_016859292.1:p.Met58Leu
XR_001738703.2:n.408A>C
NM_000821.7:c.343A>C MANE Select	NP_000812.2:p.Met115Leu
NM_001142269.4:c.172A>C	NP_001135741.1:p.Met58Leu
NM_001311312.2:c.343A>C	NP_001298241.1:p.Met115Leu