Canonical Allele Identifier: CA65910991
Gene: SERPINE2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.223980202C>A
GRCh37 chr2:g.224844919C>A
gnomAD v2:
2:224844919 C / A
gnomAD v3:
2:223980202 C / A
gnomAD v4:
chr2-223980202-C-A
Joint Max Group AF 0.00255619 (AFR)
Genomes Max Group AF 0.00264832 (AFR)
Exomes Max Group AF 0.00195618 (AFR)
dbSNP:
729631
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223980202C>A , CM000664.2:g.223980202C>A GRCh38
NC_000002.11:g.224844919C>A , CM000664.1:g.224844919C>A GRCh37
NC_000002.10:g.224553163C>A NCBI36
NG_032907.1:g.64118G>T
NG_032907.2:g.64118G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258405.9:c.1075+109G>T ENSP00000258405.4:n.1075+109G>T
ENST00000409304.6:c.1072+109G>T MANE Select ENSP00000386412.1:n.1072+109G>T
ENST00000258405.8:c.1075+109G>T ENSP00000258405.4:n.1075+109G>T
ENST00000409304.5:c.1072+109G>T ENSP00000386412.1:n.1072+109G>T
ENST00000409840.7:c.1072+109G>T ENSP00000386969.3:n.1072+109G>T
ENST00000447280.6:c.1108+109G>T ENSP00000415786.2:n.1108+109G>T
ENST00000473202.1:n.2579G>T
ENST00000478966.1:n.505+109G>T
NM_001136528.1:c.1072+109G>T NP_001130000.1:n.1072+109G>T
NM_001136530.1:c.1108+109G>T NP_001130002.1:n.1108+109G>T
NM_006216.3:c.1075+109G>T NP_006207.1:n.1075+109G>T
NR_073116.1:n.1733+109G>T
XM_005246641.2:c.1111+109G>T XP_005246698.1:n.1111+109G>T
XM_005246642.2:c.1075+109G>T XP_005246699.1:n.1075+109G>T
XM_017004330.1:c.1075+109G>T XP_016859819.1:n.1075+109G>T
XM_017004332.2:c.1072+109G>T XP_016859821.1:n.1072+109G>T
NM_001136528.2:c.1072+109G>T MANE Select NP_001130000.1:n.1072+109G>T
NM_006216.4:c.1075+109G>T NP_006207.1:n.1075+109G>T
NR_073116.2:n.1733+109G>T
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