Canonical Allele Identifier: CA427092064
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85558969-T-C
MyVariant Identifiers: chr2:g.85786092T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85558969T>C , CM000664.2:g.85558969T>C GRCh38
NC_000002.11:g.85786092T>C , CM000664.1:g.85786092T>C GRCh37
NC_000002.10:g.85639603T>C NCBI36
NG_011811.2:g.7566A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.107A>G
ENST00000482662.2:n.388A>G
ENST00000496962.2:c.321A>G ENSP00000508856.1:p.Leu107=
ENST00000685865.1:n.413A>G
ENST00000687250.1:n.424A>G
ENST00000687995.1:n.362A>G
ENST00000688205.1:c.321A>G ENSP00000509673.1:p.Leu107=
ENST00000688788.1:n.413A>G
ENST00000689276.1:c.321A>G ENSP00000510012.1:p.Leu107=
ENST00000689576.1:c.321A>G ENSP00000508712.1:p.Leu107=
ENST00000690108.1:c.321A>G ENSP00000510617.1:p.Leu107=
ENST00000690468.1:c.150A>G ENSP00000509078.1:p.Leu50=
ENST00000690595.1:c.214+1846A>G ENSP00000508979.1:n.214+1846A>G
ENST00000691348.1:c.150A>G ENSP00000509369.1:p.Leu50=
ENST00000691410.1:c.321A>G ENSP00000508479.1:p.Leu107=
ENST00000693287.1:c.-67+2417A>G ENSP00000510264.1:n.-67+2417A>G
ENST00000693681.1:c.150A>G ENSP00000510789.1:p.Leu50=
ENST00000233838.9:c.321A>G MANE Select ENSP00000233838.3:p.Leu107=
ENST00000233838.8:c.321A>G ENSP00000233838.3:p.Leu107=
ENST00000421496.5:c.150A>G ENSP00000400384.1:p.Leu50=
ENST00000423570.5:c.321A>G ENSP00000389426.1:p.Leu107=
ENST00000428479.3:c.150A>G ENSP00000390748.3:p.Leu50=
ENST00000430215.7:c.150A>G ENSP00000408045.3:p.Leu50=
ENST00000465637.5:n.178+37A>G
ENST00000481541.1:n.215A>G
ENST00000496962.1:n.440A>G
NM_000821.5:c.321A>G NP_000812.2:p.Leu107=
NM_000821.6:c.321A>G NP_000812.2:p.Leu107=
NM_001142269.2:c.150A>G NP_001135741.1:p.Leu50=
NM_001142269.3:c.150A>G NP_001135741.1:p.Leu50=
NM_001311312.1:c.321A>G NP_001298241.1:p.Leu107=
XM_005264259.3:c.321A>G XP_005264316.1:p.Leu107=
XM_011532764.1:c.-338A>G XP_011531066.1:n.-338A>G
XM_011532765.1:c.-338A>G XP_011531067.1:n.-338A>G
XR_939677.1:n.386A>G
XM_005264259.5:c.321A>G XP_005264316.1:p.Leu107=
XM_011532764.3:c.-338A>G XP_011531066.1:n.-338A>G
XM_011532765.3:c.-338A>G XP_011531067.1:n.-338A>G
XM_017003803.2:c.150A>G XP_016859292.1:p.Leu50=
XR_001738703.2:n.386A>G
NM_000821.7:c.321A>G MANE Select NP_000812.2:p.Leu107=
NM_001142269.4:c.150A>G NP_001135741.1:p.Leu50=
NM_001311312.2:c.321A>G NP_001298241.1:p.Leu107=