Canonical Allele Identifier: CA351124753

Gene: SERPINE2

Linked Data

• dbSNP Id: rs1259982474
• gnomAD v2: 2-224862949-C-G
• gnomAD v4: 2-223998232-C-G
• MyVariant Identifiers: chr2:g.224862949C>G (hg19) ; chr2:g.223998232C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223998232C>G , CM000664.2:g.223998232C>G	GRCh38
NC_000002.11:g.224862949C>G , CM000664.1:g.224862949C>G	GRCh37
NC_000002.10:g.224571193C>G	NCBI36
NG_032907.1:g.46088G>C
NG_032907.2:g.46088G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258405.9:c.370G>C	ENSP00000258405.4:p.Val124Leu
ENST00000409304.6:c.370G>C MANE Select	ENSP00000386412.1:p.Val124Leu
ENST00000258405.8:c.370G>C	ENSP00000258405.4:p.Val124Leu
ENST00000409304.5:c.370G>C	ENSP00000386412.1:p.Val124Leu
ENST00000409840.7:c.370G>C	ENSP00000386969.3:p.Val124Leu
ENST00000432738.5:c.370G>C	ENSP00000408452.1:p.Val124Leu
ENST00000447280.6:c.406G>C	ENSP00000415786.2:p.Val136Leu
NM_001136528.1:c.370G>C	NP_001130000.1:p.Val124Leu
NM_001136530.1:c.406G>C	NP_001130002.1:p.Val136Leu
NM_006216.3:c.370G>C	NP_006207.1:p.Val124Leu
NR_073116.1:n.1031G>C
XM_005246641.2:c.406G>C	XP_005246698.1:p.Val136Leu
XM_005246642.2:c.370G>C	XP_005246699.1:p.Val124Leu
XM_017004330.1:c.370G>C	XP_016859819.1:p.Val124Leu
XM_017004332.2:c.370G>C	XP_016859821.1:p.Val124Leu
NM_001136528.2:c.370G>C MANE Select	NP_001130000.1:p.Val124Leu
NM_006216.4:c.370G>C	NP_006207.1:p.Val124Leu
NR_073116.2:n.1031G>C