Canonical Allele Identifier: CA427092251
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1692322726
gnomAD v3: 2-85559014-G-A
gnomAD v4: 2-85559014-G-A
MyVariant Identifiers: chr2:g.85786137G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85559014G>A , CM000664.2:g.85559014G>A GRCh38
NC_000002.11:g.85786137G>A , CM000664.1:g.85786137G>A GRCh37
NC_000002.10:g.85639648G>A NCBI36
NG_011811.2:g.7521C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.62C>T
ENST00000482662.2:n.343C>T
ENST00000496962.2:c.276C>T ENSP00000508856.1:p.Tyr92=
ENST00000685865.1:n.368C>T
ENST00000687250.1:n.379C>T
ENST00000687995.1:n.317C>T
ENST00000688205.1:c.276C>T ENSP00000509673.1:p.Tyr92=
ENST00000688788.1:n.368C>T
ENST00000689276.1:c.276C>T ENSP00000510012.1:p.Tyr92=
ENST00000689576.1:c.276C>T ENSP00000508712.1:p.Tyr92=
ENST00000690108.1:c.276C>T ENSP00000510617.1:p.Tyr92=
ENST00000690468.1:c.105C>T ENSP00000509078.1:p.Tyr35=
ENST00000690595.1:c.214+1801C>T ENSP00000508979.1:n.214+1801C>T
ENST00000691348.1:c.105C>T ENSP00000509369.1:p.Tyr35=
ENST00000691410.1:c.276C>T ENSP00000508479.1:p.Tyr92=
ENST00000693287.1:c.-67+2372C>T ENSP00000510264.1:n.-67+2372C>T
ENST00000693681.1:c.105C>T ENSP00000510789.1:p.Tyr35=
ENST00000233838.9:c.276C>T MANE Select ENSP00000233838.3:p.Tyr92=
ENST00000233838.8:c.276C>T ENSP00000233838.3:p.Tyr92=
ENST00000421496.5:c.105C>T ENSP00000400384.1:p.Tyr35=
ENST00000423570.5:c.276C>T ENSP00000389426.1:p.Tyr92=
ENST00000428479.3:c.105C>T ENSP00000390748.3:p.Tyr35=
ENST00000430215.7:c.105C>T ENSP00000408045.3:p.Tyr35=
ENST00000465637.5:n.170C>T
ENST00000481541.1:n.170C>T
ENST00000496962.1:n.395C>T
NM_000821.5:c.276C>T NP_000812.2:p.Tyr92=
NM_000821.6:c.276C>T NP_000812.2:p.Tyr92=
NM_001142269.2:c.105C>T NP_001135741.1:p.Tyr35=
NM_001142269.3:c.105C>T NP_001135741.1:p.Tyr35=
NM_001311312.1:c.276C>T NP_001298241.1:p.Tyr92=
XM_005264259.3:c.276C>T XP_005264316.1:p.Tyr92=
XM_011532764.1:c.-383C>T XP_011531066.1:n.-383C>T
XM_011532765.1:c.-383C>T XP_011531067.1:n.-383C>T
XR_939677.1:n.341C>T
XM_005264259.5:c.276C>T XP_005264316.1:p.Tyr92=
XM_011532764.3:c.-383C>T XP_011531066.1:n.-383C>T
XM_011532765.3:c.-383C>T XP_011531067.1:n.-383C>T
XM_017003803.2:c.105C>T XP_016859292.1:p.Tyr35=
XR_001738703.2:n.341C>T
NM_000821.7:c.276C>T MANE Select NP_000812.2:p.Tyr92=
NM_001142269.4:c.105C>T NP_001135741.1:p.Tyr35=
NM_001311312.2:c.276C>T NP_001298241.1:p.Tyr92=