Canonical Allele Identifier: CA403162074

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712318G>C (hg19) ; chr19:g.7647432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647432G>C , CM000681.2:g.7647432G>C	GRCh38
NC_000019.9:g.7712318G>C , CM000681.1:g.7712318G>C	GRCh37
NC_000019.8:g.7618318G>C	NCBI36
NG_016709.1:g.15328G>C , LRG_165:g.15328G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1571G>C	ENSP00000469553.2:n.*1571G>C
ENST00000600702.6:c.1538+185G>C	ENSP00000471737.2:n.1538+185G>C
ENST00000698368.1:c.*1720G>C	ENSP00000513686.1:n.*1720G>C
ENST00000698369.1:n.2767G>C
ENST00000221283.10:c.1617G>C MANE Select	ENSP00000221283.4:p.Met539Ile
ENST00000221283.9:c.1617G>C	ENSP00000221283.4:p.Met539Ile
ENST00000414284.6:c.1608G>C	ENSP00000409471.1:p.Met536Ile
ENST00000441779.6:c.1650G>C	ENSP00000413606.2:p.Met550Ile
ENST00000595800.1:n.1534G>C
ENST00000597068.5:c.*365G>C	ENSP00000471327.1:n.*365G>C
ENST00000599278.1:n.272G>C
ENST00000599400.1:c.618G>C
ENST00000599737.5:c.1324G>C	ENSP00000471585.1:n.1324G>C
ENST00000600702.5:c.621+185G>C
ENST00000601061.1:n.478G>C
ENST00000602355.1:c.222G>C	ENSP00000473406.1:p.Met74Ile
ENST00000622853.4:c.1617G>C	ENSP00000480468.1:p.Met539Ile
NM_001127396.2:c.1608G>C	NP_001120868.1:p.Met536Ile
NM_001272034.1:c.1650G>C	NP_001258963.1:p.Met550Ile
NM_006949.3:c.1617G>C	NP_008880.2:p.Met539Ile
NR_073560.1:n.1641G>C
NM_006949.4:c.1617G>C MANE Select	NP_008880.2:p.Met539Ile
NM_001127396.3:c.1608G>C	NP_001120868.1:p.Met536Ile
NM_001272034.2:c.1650G>C	NP_001258963.1:p.Met550Ile
NR_073560.2:n.1632G>C