Canonical Allele Identifier: CA426742202
Gene: EXOC6B HGNC NCBI

Linked Data

ClinVar Variation Id: 1619217
ClinVar RCV Id: RCV002086565
dbSNP Id: rs2105580954
gnomAD v4: 2-72498546-A-G
MyVariant Identifiers: chr2:g.72725675A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72498546A>G , CM000664.2:g.72498546A>G GRCh38
NC_000002.11:g.72725675A>G , CM000664.1:g.72725675A>G GRCh37
NC_000002.10:g.72579183A>G NCBI36
NG_050967.1:g.332503T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272427.11:c.1245T>C MANE Select ENSP00000272427.7:p.Tyr415=
ENST00000272427.10:c.1245T>C ENSP00000272427.6:p.Tyr415=
ENST00000410104.1:c.1245T>C ENSP00000386698.1:p.Tyr415=
ENST00000410112.6:c.*956T>C ENSP00000386634.2:n.*956T>C
ENST00000634650.1:c.1245T>C ENSP00000489442.1:p.Tyr415=
NM_015189.1:c.1245T>C NP_056004.1:p.Tyr415=
XM_005264223.1:c.1245T>C XP_005264280.1:p.Tyr415=
XM_005264224.1:c.249T>C XP_005264281.1:p.Tyr83=
XM_011532710.1:c.1176T>C XP_011531012.1:p.Tyr392=
XM_011532711.1:c.1245T>C XP_011531013.1:p.Tyr415=
XM_011532712.1:c.1245T>C XP_011531014.1:p.Tyr415=
NM_001321729.1:c.1245T>C NP_001308658.1:p.Tyr415=
NM_001321730.1:c.1245T>C NP_001308659.1:p.Tyr415=
NM_001321731.1:c.1245T>C NP_001308660.1:p.Tyr415=
NM_001321733.1:c.1245T>C NP_001308662.1:p.Tyr415=
NM_001321734.1:c.906T>C NP_001308663.1:p.Tyr302=
NM_015189.2:c.1245T>C NP_056004.1:p.Tyr415=
NR_135773.1:n.1377T>C
NR_135774.1:n.1377T>C
XM_011532711.3:c.1245T>C XP_011531013.1:p.Tyr415=
XM_011532712.3:c.1245T>C XP_011531014.1:p.Tyr415=
XM_017003641.1:c.699T>C XP_016859130.1:p.Tyr233=
XM_017003642.1:c.249T>C XP_016859131.1:p.Tyr83=
NM_001321729.2:c.1245T>C NP_001308658.1:p.Tyr415=
NM_001321730.2:c.1245T>C NP_001308659.1:p.Tyr415=
NM_001321731.2:c.1245T>C NP_001308660.1:p.Tyr415=
NM_001321733.2:c.1245T>C NP_001308662.1:p.Tyr415=
NM_001321734.2:c.906T>C NP_001308663.1:p.Tyr302=
NM_015189.3:c.1245T>C MANE Select NP_056004.1:p.Tyr415=
NR_135773.2:n.1368T>C
NR_135774.2:n.1368T>C