Canonical Allele Identifier: CA427092343
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85559038-C-G
MyVariant Identifiers: chr2:g.85786161C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85559038C>G , CM000664.2:g.85559038C>G GRCh38
NC_000002.11:g.85786161C>G , CM000664.1:g.85786161C>G GRCh37
NC_000002.10:g.85639672C>G NCBI36
NG_011811.2:g.7497G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.38G>C
ENST00000482662.2:n.319G>C
ENST00000496962.2:c.252G>C ENSP00000508856.1:p.Gly84=
ENST00000685865.1:n.344G>C
ENST00000687250.1:n.355G>C
ENST00000687995.1:n.293G>C
ENST00000688205.1:c.252G>C ENSP00000509673.1:p.Gly84=
ENST00000688788.1:n.344G>C
ENST00000689276.1:c.252G>C ENSP00000510012.1:p.Gly84=
ENST00000689576.1:c.252G>C ENSP00000508712.1:p.Gly84=
ENST00000690108.1:c.252G>C ENSP00000510617.1:p.Gly84=
ENST00000690468.1:c.81G>C ENSP00000509078.1:p.Gly27=
ENST00000690595.1:c.214+1777G>C ENSP00000508979.1:n.214+1777G>C
ENST00000691348.1:c.81G>C ENSP00000509369.1:p.Gly27=
ENST00000691410.1:c.252G>C ENSP00000508479.1:p.Gly84=
ENST00000693287.1:c.-67+2348G>C ENSP00000510264.1:n.-67+2348G>C
ENST00000693681.1:c.81G>C ENSP00000510789.1:p.Gly27=
ENST00000233838.9:c.252G>C MANE Select ENSP00000233838.3:p.Gly84=
ENST00000233838.8:c.252G>C ENSP00000233838.3:p.Gly84=
ENST00000421496.5:c.81G>C ENSP00000400384.1:p.Gly27=
ENST00000423570.5:c.252G>C ENSP00000389426.1:p.Gly84=
ENST00000428479.3:c.81G>C ENSP00000390748.3:p.Gly27=
ENST00000430215.7:c.81G>C ENSP00000408045.3:p.Gly27=
ENST00000465637.5:n.146G>C
ENST00000481541.1:n.146G>C
ENST00000496962.1:n.371G>C
NM_000821.5:c.252G>C NP_000812.2:p.Gly84=
NM_000821.6:c.252G>C NP_000812.2:p.Gly84=
NM_001142269.2:c.81G>C NP_001135741.1:p.Gly27=
NM_001142269.3:c.81G>C NP_001135741.1:p.Gly27=
NM_001311312.1:c.252G>C NP_001298241.1:p.Gly84=
XM_005264259.3:c.252G>C XP_005264316.1:p.Gly84=
XM_011532764.1:c.-407G>C XP_011531066.1:n.-407G>C
XM_011532765.1:c.-407G>C XP_011531067.1:n.-407G>C
XR_939677.1:n.317G>C
XM_005264259.5:c.252G>C XP_005264316.1:p.Gly84=
XM_011532764.3:c.-407G>C XP_011531066.1:n.-407G>C
XM_011532765.3:c.-407G>C XP_011531067.1:n.-407G>C
XM_017003803.2:c.81G>C XP_016859292.1:p.Gly27=
XR_001738703.2:n.317G>C
NM_000821.7:c.252G>C MANE Select NP_000812.2:p.Gly84=
NM_001142269.4:c.81G>C NP_001135741.1:p.Gly27=
NM_001311312.2:c.252G>C NP_001298241.1:p.Gly84=