Canonical Allele Identifier: CA2139443

Gene: SERPINE2

Linked Data

• ClinVar Variation Id: 3160471
• ClinVar RCV Id: RCV004453373
• dbSNP Id: rs747597085
• ExAC: 2:224863029 T / C
• gnomAD v2: 2-224863029-T-C
• gnomAD v3: 2-223998312-T-C
• gnomAD v4: 2-223998312-T-C
• MyVariant Identifiers: chr2:g.224863029T>C (hg19) ; chr2:g.223998312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223998312T>C , CM000664.2:g.223998312T>C	GRCh38
NC_000002.11:g.224863029T>C , CM000664.1:g.224863029T>C	GRCh37
NC_000002.10:g.224571273T>C	NCBI36
NG_032907.1:g.46008A>G
NG_032907.2:g.46008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258405.9:c.290A>G	ENSP00000258405.4:p.Lys97Arg
ENST00000409304.6:c.290A>G MANE Select	ENSP00000386412.1:p.Lys97Arg
ENST00000258405.8:c.290A>G	ENSP00000258405.4:p.Lys97Arg
ENST00000409304.5:c.290A>G	ENSP00000386412.1:p.Lys97Arg
ENST00000409840.7:c.290A>G	ENSP00000386969.3:p.Lys97Arg
ENST00000432738.5:c.290A>G	ENSP00000408452.1:p.Lys97Arg
ENST00000447280.6:c.326A>G	ENSP00000415786.2:p.Lys109Arg
NM_001136528.1:c.290A>G	NP_001130000.1:p.Lys97Arg
NM_001136530.1:c.326A>G	NP_001130002.1:p.Lys109Arg
NM_006216.3:c.290A>G	NP_006207.1:p.Lys97Arg
NR_073116.1:n.951A>G
XM_005246641.2:c.326A>G	XP_005246698.1:p.Lys109Arg
XM_005246642.2:c.290A>G	XP_005246699.1:p.Lys97Arg
XM_017004330.1:c.290A>G	XP_016859819.1:p.Lys97Arg
XM_017004332.2:c.290A>G	XP_016859821.1:p.Lys97Arg
NM_001136528.2:c.290A>G MANE Select	NP_001130000.1:p.Lys97Arg
NM_006216.4:c.290A>G	NP_006207.1:p.Lys97Arg
NR_073116.2:n.951A>G