Canonical Allele Identifier: CA540311896

Gene: SERPINE2

Linked Data

• dbSNP Id: rs1365296768
• gnomAD v2: 2-224862922-CAT-C
• gnomAD v4: 2-223998205-CAT-C
• MyVariant Identifiers: chr2:g.224862923_224862924del (hg19) ; chr2:g.223998206_223998207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223998206_223998207del , CM000664.2:g.223998206_223998207del	GRCh38
NC_000002.11:g.224862923_224862924del , CM000664.1:g.224862923_224862924del	GRCh37
NC_000002.10:g.224571167_224571168del	NCBI36
NG_032907.1:g.46113_46114del
NG_032907.2:g.46113_46114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258405.9:c.395_396del	ENSP00000258405.4:p.Asp132GlyfsTer5
ENST00000409304.6:c.395_396del MANE Select	ENSP00000386412.1:p.Asp132GlyfsTer5
ENST00000258405.8:c.395_396del	ENSP00000258405.4:p.Asp132GlyfsTer5
ENST00000409304.5:c.395_396del	ENSP00000386412.1:p.Asp132GlyfsTer5
ENST00000409840.7:c.395_396del	ENSP00000386969.3:p.Asp132GlyfsTer5
ENST00000432738.5:c.395_396del	ENSP00000408452.1:p.Asp132GlyfsTer5
ENST00000447280.6:c.431_432del	ENSP00000415786.2:p.Asp144GlyfsTer5
NM_001136528.1:c.395_396del	NP_001130000.1:p.Asp132GlyfsTer5
NM_001136530.1:c.431_432del	NP_001130002.1:p.Asp144GlyfsTer5
NM_006216.3:c.395_396del	NP_006207.1:p.Asp132GlyfsTer5
NR_073116.1:n.1056_1057del
XM_005246641.2:c.431_432del	XP_005246698.1:p.Asp144GlyfsTer5
XM_005246642.2:c.395_396del	XP_005246699.1:p.Asp132GlyfsTer5
XM_017004330.1:c.395_396del	XP_016859819.1:p.Asp132GlyfsTer5
XM_017004332.2:c.395_396del	XP_016859821.1:p.Asp132GlyfsTer5
NM_001136528.2:c.395_396del MANE Select	NP_001130000.1:p.Asp132GlyfsTer5
NM_006216.4:c.395_396del	NP_006207.1:p.Asp132GlyfsTer5
NR_073116.2:n.1056_1057del