Canonical Allele Identifier: CA2139425

Gene: SERPINE2

Linked Data

• ClinVar Variation Id: 2407085
• ClinVar RCV Id: RCV004242001
• dbSNP Id: rs773966382
• ExAC: 2:224862898 C / T
• gnomAD v2: 2-224862898-C-T
• gnomAD v3: 2-223998181-C-T
• gnomAD v4: 2-223998181-C-T
• MyVariant Identifiers: chr2:g.224862898C>T (hg19) ; chr2:g.223998181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223998181C>T , CM000664.2:g.223998181C>T	GRCh38
NC_000002.11:g.224862898C>T , CM000664.1:g.224862898C>T	GRCh37
NC_000002.10:g.224571142C>T	NCBI36
NG_032907.1:g.46139G>A
NG_032907.2:g.46139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258405.9:c.421G>A	ENSP00000258405.4:p.Val141Met
ENST00000409304.6:c.421G>A MANE Select	ENSP00000386412.1:p.Val141Met
ENST00000258405.8:c.421G>A	ENSP00000258405.4:p.Val141Met
ENST00000409304.5:c.421G>A	ENSP00000386412.1:p.Val141Met
ENST00000409840.7:c.421G>A	ENSP00000386969.3:p.Val141Met
ENST00000432738.5:c.421G>A	ENSP00000408452.1:p.Val141Met
ENST00000447280.6:c.457G>A	ENSP00000415786.2:p.Val153Met
NM_001136528.1:c.421G>A	NP_001130000.1:p.Val141Met
NM_001136530.1:c.457G>A	NP_001130002.1:p.Val153Met
NM_006216.3:c.421G>A	NP_006207.1:p.Val141Met
NR_073116.1:n.1082G>A
XM_005246641.2:c.457G>A	XP_005246698.1:p.Val153Met
XM_005246642.2:c.421G>A	XP_005246699.1:p.Val141Met
XM_017004330.1:c.421G>A	XP_016859819.1:p.Val141Met
XM_017004332.2:c.421G>A	XP_016859821.1:p.Val141Met
NM_001136528.2:c.421G>A MANE Select	NP_001130000.1:p.Val141Met
NM_006216.4:c.421G>A	NP_006207.1:p.Val141Met
NR_073116.2:n.1082G>A