Canonical Allele Identifier: CA403161993

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712274G>T (hg19) ; chr19:g.7647388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647388G>T , CM000681.2:g.7647388G>T	GRCh38
NC_000019.9:g.7712274G>T , CM000681.1:g.7712274G>T	GRCh37
NC_000019.8:g.7618274G>T	NCBI36
NG_016709.1:g.15284G>T , LRG_165:g.15284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1527G>T	ENSP00000469553.2:n.*1527G>T
ENST00000600702.6:c.1538+141G>T	ENSP00000471737.2:n.1538+141G>T
ENST00000698368.1:c.*1676G>T	ENSP00000513686.1:n.*1676G>T
ENST00000698369.1:n.2723G>T
ENST00000221283.10:c.1573G>T MANE Select	ENSP00000221283.4:p.Gly525Cys
ENST00000221283.9:c.1573G>T	ENSP00000221283.4:p.Gly525Cys
ENST00000414284.6:c.1564G>T	ENSP00000409471.1:p.Gly522Cys
ENST00000441779.6:c.1606G>T	ENSP00000413606.2:p.Gly536Cys
ENST00000595800.1:n.1490G>T
ENST00000597068.5:c.*321G>T	ENSP00000471327.1:n.*321G>T
ENST00000599278.1:n.228G>T
ENST00000599400.1:c.574G>T
ENST00000599737.5:c.1280G>T	ENSP00000471585.1:n.1280G>T
ENST00000600702.5:c.621+141G>T
ENST00000601061.1:n.434G>T
ENST00000602355.1:c.178G>T	ENSP00000473406.1:p.Gly60Cys
ENST00000622853.4:c.1573G>T	ENSP00000480468.1:p.Gly525Cys
NM_001127396.2:c.1564G>T	NP_001120868.1:p.Gly522Cys
NM_001272034.1:c.1606G>T	NP_001258963.1:p.Gly536Cys
NM_006949.3:c.1573G>T	NP_008880.2:p.Gly525Cys
NR_073560.1:n.1597G>T
NM_006949.4:c.1573G>T MANE Select	NP_008880.2:p.Gly525Cys
NM_001127396.3:c.1564G>T	NP_001120868.1:p.Gly522Cys
NM_001272034.2:c.1606G>T	NP_001258963.1:p.Gly536Cys
NR_073560.2:n.1588G>T