Canonical Allele Identifier: CA2139416

Gene: SERPINE2

Linked Data

• dbSNP Id: rs144110162
• ExAC: 2:224862834 C / T
• gnomAD v2: 2-224862834-C-T
• gnomAD v3: 2-223998117-C-T
• gnomAD v4: 2-223998117-C-T
• MyVariant Identifiers: chr2:g.224862834C>T (hg19) ; chr2:g.224862834_224862835delinsTT (hg19) ; chr2:g.223998117C>T (hg38) ; chr2:g.223998117_223998118delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223998117C>T , CM000664.2:g.223998117C>T	GRCh38
NC_000002.11:g.224862834C>T , CM000664.1:g.224862834C>T	GRCh37
NC_000002.10:g.224571078C>T	NCBI36
NG_032907.1:g.46203G>A
NG_032907.2:g.46203G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258405.9:c.485G>A	ENSP00000258405.4:p.Arg162Lys
ENST00000409304.6:c.485G>A MANE Select	ENSP00000386412.1:p.Arg162Lys
ENST00000258405.8:c.485G>A	ENSP00000258405.4:p.Arg162Lys
ENST00000409304.5:c.485G>A	ENSP00000386412.1:p.Arg162Lys
ENST00000409840.7:c.485G>A	ENSP00000386969.3:p.Arg162Lys
ENST00000432738.5:c.485G>A	ENSP00000408452.1:p.Arg162Lys
ENST00000447280.6:c.521G>A	ENSP00000415786.2:p.Arg174Lys
NM_001136528.1:c.485G>A	NP_001130000.1:p.Arg162Lys
NM_001136530.1:c.521G>A	NP_001130002.1:p.Arg174Lys
NM_006216.3:c.485G>A	NP_006207.1:p.Arg162Lys
NR_073116.1:n.1146G>A
XM_005246641.2:c.521G>A	XP_005246698.1:p.Arg174Lys
XM_005246642.2:c.485G>A	XP_005246699.1:p.Arg162Lys
XM_017004330.1:c.485G>A	XP_016859819.1:p.Arg162Lys
XM_017004332.2:c.485G>A	XP_016859821.1:p.Arg162Lys
NM_001136528.2:c.485G>A MANE Select	NP_001130000.1:p.Arg162Lys
NM_006216.4:c.485G>A	NP_006207.1:p.Arg162Lys
NR_073116.2:n.1146G>A