Canonical Allele Identifier: CA343567689

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179526232T>G (hg19) ; chr1:g.179557097T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557097T>G , CM000663.2:g.179557097T>G	GRCh38
NC_000001.10:g.179526232T>G , CM000663.1:g.179526232T>G	GRCh37
NC_000001.9:g.177792855T>G	NCBI36
NG_007535.1:g.23853A>C , LRG_887:g.23853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.668A>C MANE Select	ENSP00000356587.4:p.Lys223Thr
ENST00000367615.8:c.668A>C	ENSP00000356587.4:p.Lys223Thr
ENST00000367616.4:c.535-2566A>C	ENSP00000356588.4:n.535-2566A>C
NM_001297575.1:c.535-2566A>C	NP_001284504.1:n.535-2566A>C
NM_014625.3:c.668A>C , LRG_887t1:c.668A>C	NP_055440.1:p.Lys223Thr
XM_005245483.2:c.491A>C	XP_005245540.1:p.Lys164Thr
XM_006711529.2:c.668A>C	XP_006711592.1:p.Lys223Thr
XM_005245483.3:c.491A>C	XP_005245540.1:p.Lys164Thr
XM_017002298.1:c.461+2582A>C	XP_016857787.1:n.461+2582A>C
XM_017002299.1:c.534+2582A>C	XP_016857788.1:n.534+2582A>C
NM_001297575.2:c.535-2566A>C	NP_001284504.1:n.535-2566A>C
NM_014625.4:c.668A>C MANE Select	NP_055440.1:p.Lys223Thr