Canonical Allele Identifier: CA2139429

Gene: SERPINE2

Linked Data

• dbSNP Id: rs760330307
• ExAC: 2:224862945 G / A
• gnomAD v2: 2-224862945-G-A
• gnomAD v3: 2-223998228-G-A
• gnomAD v4: 2-223998228-G-A
• COSMIC: COSM1692062 ; COSM1692063
• MyVariant Identifiers: chr2:g.224862945G>A (hg19) ; chr2:g.223998228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223998228G>A , CM000664.2:g.223998228G>A	GRCh38
NC_000002.11:g.224862945G>A , CM000664.1:g.224862945G>A	GRCh37
NC_000002.10:g.224571189G>A	NCBI36
NG_032907.1:g.46092C>T
NG_032907.2:g.46092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258405.9:c.374C>T	ENSP00000258405.4:p.Pro125Leu
ENST00000409304.6:c.374C>T MANE Select	ENSP00000386412.1:p.Pro125Leu
ENST00000258405.8:c.374C>T	ENSP00000258405.4:p.Pro125Leu
ENST00000409304.5:c.374C>T	ENSP00000386412.1:p.Pro125Leu
ENST00000409840.7:c.374C>T	ENSP00000386969.3:p.Pro125Leu
ENST00000432738.5:c.374C>T	ENSP00000408452.1:p.Pro125Leu
ENST00000447280.6:c.410C>T	ENSP00000415786.2:p.Pro137Leu
NM_001136528.1:c.374C>T	NP_001130000.1:p.Pro125Leu
NM_001136530.1:c.410C>T	NP_001130002.1:p.Pro137Leu
NM_006216.3:c.374C>T	NP_006207.1:p.Pro125Leu
NR_073116.1:n.1035C>T
XM_005246641.2:c.410C>T	XP_005246698.1:p.Pro137Leu
XM_005246642.2:c.374C>T	XP_005246699.1:p.Pro125Leu
XM_017004330.1:c.374C>T	XP_016859819.1:p.Pro125Leu
XM_017004332.2:c.374C>T	XP_016859821.1:p.Pro125Leu
NM_001136528.2:c.374C>T MANE Select	NP_001130000.1:p.Pro125Leu
NM_006216.4:c.374C>T	NP_006207.1:p.Pro125Leu
NR_073116.2:n.1035C>T