Canonical Allele Identifier: CA347429679

Gene: EXOC6B

Linked Data

• ClinVar Variation Id: 1991454
• ClinVar RCV Id: RCV002790633
• MyVariant Identifiers: chr2:g.72723684T>C (hg19) ; chr2:g.72496555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72496555T>C , CM000664.2:g.72496555T>C	GRCh38
NC_000002.11:g.72723684T>C , CM000664.1:g.72723684T>C	GRCh37
NC_000002.10:g.72577192T>C	NCBI36
NG_050967.1:g.334494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272427.11:c.1342A>G MANE Select	ENSP00000272427.7:p.Ile448Val
ENST00000272427.10:c.1342A>G	ENSP00000272427.6:p.Ile448Val
ENST00000410104.1:c.1342A>G	ENSP00000386698.1:p.Ile448Val
ENST00000410112.6:c.*1053A>G	ENSP00000386634.2:n.*1053A>G
ENST00000634650.1:c.1342A>G	ENSP00000489442.1:p.Ile448Val
NM_015189.1:c.1342A>G	NP_056004.1:p.Ile448Val
XM_005264223.1:c.1342A>G	XP_005264280.1:p.Ile448Val
XM_005264224.1:c.346A>G	XP_005264281.1:p.Ile116Val
XM_011532710.1:c.1273A>G	XP_011531012.1:p.Ile425Val
XM_011532711.1:c.1342A>G	XP_011531013.1:p.Ile448Val
XM_011532712.1:c.1342A>G	XP_011531014.1:p.Ile448Val
NM_001321729.1:c.1342A>G	NP_001308658.1:p.Ile448Val
NM_001321730.1:c.1342A>G	NP_001308659.1:p.Ile448Val
NM_001321731.1:c.1342A>G	NP_001308660.1:p.Ile448Val
NM_001321733.1:c.1342A>G	NP_001308662.1:p.Ile448Val
NM_001321734.1:c.1003A>G	NP_001308663.1:p.Ile335Val
NM_015189.2:c.1342A>G	NP_056004.1:p.Ile448Val
NR_135773.1:n.1474A>G
NR_135774.1:n.1474A>G
XM_011532711.3:c.1342A>G	XP_011531013.1:p.Ile448Val
XM_011532712.3:c.1342A>G	XP_011531014.1:p.Ile448Val
XM_017003641.1:c.796A>G	XP_016859130.1:p.Ile266Val
XM_017003642.1:c.346A>G	XP_016859131.1:p.Ile116Val
NM_001321729.2:c.1342A>G	NP_001308658.1:p.Ile448Val
NM_001321730.2:c.1342A>G	NP_001308659.1:p.Ile448Val
NM_001321731.2:c.1342A>G	NP_001308660.1:p.Ile448Val
NM_001321733.2:c.1342A>G	NP_001308662.1:p.Ile448Val
NM_001321734.2:c.1003A>G	NP_001308663.1:p.Ile335Val
NM_015189.3:c.1342A>G MANE Select	NP_056004.1:p.Ile448Val
NR_135773.2:n.1465A>G
NR_135774.2:n.1465A>G