Canonical Allele Identifier: CA403162036

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712299G>C (hg19) ; chr19:g.7647413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647413G>C , CM000681.2:g.7647413G>C	GRCh38
NC_000019.9:g.7712299G>C , CM000681.1:g.7712299G>C	GRCh37
NC_000019.8:g.7618299G>C	NCBI36
NG_016709.1:g.15309G>C , LRG_165:g.15309G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1552G>C	ENSP00000469553.2:n.*1552G>C
ENST00000600702.6:c.1538+166G>C	ENSP00000471737.2:n.1538+166G>C
ENST00000698368.1:c.*1701G>C	ENSP00000513686.1:n.*1701G>C
ENST00000698369.1:n.2748G>C
ENST00000221283.10:c.1598G>C MANE Select	ENSP00000221283.4:p.Arg533Pro
ENST00000221283.9:c.1598G>C	ENSP00000221283.4:p.Arg533Pro
ENST00000414284.6:c.1589G>C	ENSP00000409471.1:p.Arg530Pro
ENST00000441779.6:c.1631G>C	ENSP00000413606.2:p.Arg544Pro
ENST00000595800.1:n.1515G>C
ENST00000597068.5:c.*346G>C	ENSP00000471327.1:n.*346G>C
ENST00000599278.1:n.253G>C
ENST00000599400.1:c.599G>C
ENST00000599737.5:c.1305G>C	ENSP00000471585.1:n.1305G>C
ENST00000600702.5:c.621+166G>C
ENST00000601061.1:n.459G>C
ENST00000602355.1:c.203G>C	ENSP00000473406.1:p.Arg68Pro
ENST00000622853.4:c.1598G>C	ENSP00000480468.1:p.Arg533Pro
NM_001127396.2:c.1589G>C	NP_001120868.1:p.Arg530Pro
NM_001272034.1:c.1631G>C	NP_001258963.1:p.Arg544Pro
NM_006949.3:c.1598G>C	NP_008880.2:p.Arg533Pro
NR_073560.1:n.1622G>C
NM_006949.4:c.1598G>C MANE Select	NP_008880.2:p.Arg533Pro
NM_001127396.3:c.1589G>C	NP_001120868.1:p.Arg530Pro
NM_001272034.2:c.1631G>C	NP_001258963.1:p.Arg544Pro
NR_073560.2:n.1613G>C