Canonical Allele Identifier: CA422026232

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179530449C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561314C>A , CM000663.2:g.179561314C>A	GRCh38
NC_000001.10:g.179530449C>A , CM000663.1:g.179530449C>A	GRCh37
NC_000001.9:g.177797072C>A	NCBI36
NG_007535.1:g.19636G>T , LRG_887:g.19636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.426G>T MANE Select	ENSP00000356587.4:p.Leu142=
ENST00000367615.8:c.426G>T	ENSP00000356587.4:p.Leu142=
ENST00000367616.4:c.426G>T	ENSP00000356588.4:p.Leu142=
NM_001297575.1:c.426G>T	NP_001284504.1:p.Leu142=
NM_014625.3:c.426G>T , LRG_887t1:c.426G>T	NP_055440.1:p.Leu142=
XM_005245483.2:c.275-1553G>T	XP_005245540.1:n.275-1553G>T
XM_006711529.2:c.426G>T	XP_006711592.1:p.Leu142=
XM_005245483.3:c.275-1553G>T	XP_005245540.1:n.275-1553G>T
XM_017002298.1:c.379-1553G>T	XP_016857787.1:n.379-1553G>T
XM_017002299.1:c.426G>T	XP_016857788.1:p.Leu142=
NM_001297575.2:c.426G>T	NP_001284504.1:p.Leu142=
NM_014625.4:c.426G>T MANE Select	NP_055440.1:p.Leu142=