Canonical Allele Identifier: CA2587978455

Gene: STXBP2

Linked Data

• gnomAD v4: 19-7647530-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647530G>A , CM000681.2:g.7647530G>A	GRCh38
NC_000019.9:g.7712416G>A , CM000681.1:g.7712416G>A	GRCh37
NC_000019.8:g.7618416G>A	NCBI36
NG_016709.1:g.15426G>A , LRG_165:g.15426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1539-195G>A	ENSP00000471737.2:n.1539-195G>A
ENST00000221283.10:c.1696+19G>A MANE Select	ENSP00000221283.4:n.1696+19G>A
ENST00000221283.9:c.1696+19G>A	ENSP00000221283.4:n.1696+19G>A
ENST00000414284.6:c.1687+19G>A	ENSP00000409471.1:n.1687+19G>A
ENST00000441779.6:c.1729+19G>A	ENSP00000413606.2:n.1729+19G>A
ENST00000595800.1:n.1632G>A
ENST00000597068.5:c.*444+19G>A	ENSP00000471327.1:n.*444+19G>A
ENST00000599400.1:c.697+19G>A
ENST00000599737.5:c.1403+19G>A	ENSP00000471585.1:n.1403+19G>A
ENST00000600702.5:c.622-195G>A
ENST00000601061.1:n.557+19G>A
ENST00000602355.1:c.301+19G>A	ENSP00000473406.1:n.301+19G>A
ENST00000622853.4:c.1695+19G>A	ENSP00000480468.1:n.1695+19G>A
NM_001127396.2:c.1687+19G>A	NP_001120868.1:n.1687+19G>A
NM_001272034.1:c.1729+19G>A	NP_001258963.1:n.1729+19G>A
NM_006949.3:c.1696+19G>A	NP_008880.2:n.1696+19G>A
NR_073560.1:n.1720+19G>A
NM_006949.4:c.1696+19G>A MANE Select	NP_008880.2:n.1696+19G>A
NM_001127396.3:c.1687+19G>A	NP_001120868.1:n.1687+19G>A
NM_001272034.2:c.1729+19G>A	NP_001258963.1:n.1729+19G>A
NR_073560.2:n.1711+19G>A