Canonical Allele Identifier: CA347429519

Gene: EXOC6B

Linked Data

• ClinVar Variation Id: 2714435
• ClinVar RCV Id: RCV003550877
• gnomAD v4: 2-72496486-G-A
• MyVariant Identifiers: chr2:g.72723615G>A (hg19) ; chr2:g.72496486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72496486G>A , CM000664.2:g.72496486G>A	GRCh38
NC_000002.11:g.72723615G>A , CM000664.1:g.72723615G>A	GRCh37
NC_000002.10:g.72577123G>A	NCBI36
NG_050967.1:g.334563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272427.11:c.1411C>T MANE Select	ENSP00000272427.7:p.Gln471Ter
ENST00000272427.10:c.1411C>T	ENSP00000272427.6:p.Gln471Ter
ENST00000410104.1:c.1411C>T	ENSP00000386698.1:p.Gln471Ter
ENST00000410112.6:c.*1122C>T	ENSP00000386634.2:n.*1122C>T
ENST00000634650.1:c.1411C>T	ENSP00000489442.1:p.Gln471Ter
NM_015189.1:c.1411C>T	NP_056004.1:p.Gln471Ter
XM_005264223.1:c.1411C>T	XP_005264280.1:p.Gln471Ter
XM_005264224.1:c.415C>T	XP_005264281.1:p.Gln139Ter
XM_011532710.1:c.1342C>T	XP_011531012.1:p.Gln448Ter
XM_011532711.1:c.1411C>T	XP_011531013.1:p.Gln471Ter
XM_011532712.1:c.1411C>T	XP_011531014.1:p.Gln471Ter
NM_001321729.1:c.1411C>T	NP_001308658.1:p.Gln471Ter
NM_001321730.1:c.1411C>T	NP_001308659.1:p.Gln471Ter
NM_001321731.1:c.1411C>T	NP_001308660.1:p.Gln471Ter
NM_001321733.1:c.1411C>T	NP_001308662.1:p.Gln471Ter
NM_001321734.1:c.1072C>T	NP_001308663.1:p.Gln358Ter
NM_015189.2:c.1411C>T	NP_056004.1:p.Gln471Ter
NR_135773.1:n.1543C>T
NR_135774.1:n.1543C>T
XM_011532711.3:c.1411C>T	XP_011531013.1:p.Gln471Ter
XM_011532712.3:c.1411C>T	XP_011531014.1:p.Gln471Ter
XM_017003641.1:c.865C>T	XP_016859130.1:p.Gln289Ter
XM_017003642.1:c.415C>T	XP_016859131.1:p.Gln139Ter
NM_001321729.2:c.1411C>T	NP_001308658.1:p.Gln471Ter
NM_001321730.2:c.1411C>T	NP_001308659.1:p.Gln471Ter
NM_001321731.2:c.1411C>T	NP_001308660.1:p.Gln471Ter
NM_001321733.2:c.1411C>T	NP_001308662.1:p.Gln471Ter
NM_001321734.2:c.1072C>T	NP_001308663.1:p.Gln358Ter
NM_015189.3:c.1411C>T MANE Select	NP_056004.1:p.Gln471Ter
NR_135773.2:n.1534C>T
NR_135774.2:n.1534C>T