Canonical Allele Identifier: CA343566503

Gene: NPHS2 AXDND1

Linked Data

• MyVariant Identifiers: chr1:g.179523653G>C (hg19) ; chr1:g.179554518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554518G>C , CM000663.2:g.179554518G>C	GRCh38
NC_000001.10:g.179523653G>C , CM000663.1:g.179523653G>C	GRCh37
NC_000001.9:g.177790276G>C	NCBI36
NG_007535.1:g.26432C>G , LRG_887:g.26432C>G
NG_033075.1:g.193799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.752C>G (NPHS2) MANE Select	ENSP00000356587.4:p.Ser251Ter
ENST00000367618.8:c.3038G>C (AXDND1) MANE Select	ENSP00000356590.3:p.Ter1013Ser
ENST00000367615.8:c.752C>G (NPHS2)	ENSP00000356587.4:p.Ser251Ter
ENST00000367616.4:c.548C>G (NPHS2)	ENSP00000356588.4:p.Ser183Ter
ENST00000367618.7:c.3038G>C (AXDND1)	ENSP00000356590.3:p.Ter1013Ser
ENST00000434088.1:c.2618G>C (AXDND1)	ENSP00000391716.1:p.Ter873Ser
ENST00000457238.6:c.*1017G>C (AXDND1)	ENSP00000416712.3:n.*1017G>C
ENST00000484455.1:n.477G>C (AXDND1)
ENST00000484883.1:n.917G>C (AXDND1)
ENST00000489080.1:n.1642G>C (AXDND1)
ENST00000511157.5:c.*1307G>C (AXDND1)	ENSP00000424373.1:n.*1307G>C
ENST00000617277.4:c.*1213G>C (AXDND1)	ENSP00000482167.1:n.*1213G>C
NM_001297575.1:c.548C>G (NPHS2)	NP_001284504.1:p.Ser183Ter
NM_014625.3:c.752C>G , LRG_887t1:c.752C>G (NPHS2)	NP_055440.1:p.Ser251Ter
NM_144696.5:c.3038G>C (AXDND1)	NP_653297.3:p.Ter1013Ser
NR_073544.1:n.3158G>C (AXDND1)
XM_005245483.2:c.575C>G (NPHS2)	XP_005245540.1:p.Ser192Ter
XM_006711529.2:c.752C>G (NPHS2)	XP_006711592.1:p.Ser251Ter
XM_011509165.1:c.3044G>C (AXDND1)	XP_011507467.1:p.Ter1015Ser
XM_011509166.1:c.3044G>C (AXDND1)	XP_011507468.1:p.Ter1015Ser
XM_011509167.1:c.3044G>C (AXDND1)	XP_011507469.1:p.Ter1015Ser
XM_011509168.1:c.3044G>C (AXDND1)	XP_011507470.1:p.Ter1015Ser
XM_011509169.1:c.2981G>C (AXDND1)	XP_011507471.1:p.Ter994Ser
XM_011509170.1:c.2936G>C (AXDND1)	XP_011507472.1:p.Ter979Ser
XM_011509171.1:c.2918G>C (AXDND1)	XP_011507473.1:p.Ter973Ser
XM_011509172.1:c.2918G>C (AXDND1)	XP_011507474.1:p.Ter973Ser
XM_011509173.1:c.2918G>C (AXDND1)	XP_011507475.1:p.Ter973Ser
XM_011509174.1:c.2822G>C (AXDND1)	XP_011507476.1:p.Ter941Ser
XM_011509175.1:c.2816G>C (AXDND1)	XP_011507477.1:p.Ter939Ser
XM_011509176.1:c.2747G>C (AXDND1)	XP_011507478.1:p.Ter916Ser
XM_011509179.1:c.2408G>C (AXDND1)	XP_011507481.1:p.Ter803Ser
XM_011509181.1:c.1967G>C (AXDND1)	XP_011507483.1:p.Ter656Ser
XM_005245483.3:c.575C>G (NPHS2)	XP_005245540.1:p.Ser192Ter
XM_011509166.3:c.3044G>C (AXDND1)	XP_011507468.1:p.Ter1015Ser
XM_011509167.3:c.3044G>C (AXDND1)	XP_011507469.1:p.Ter1015Ser
XM_011509179.2:c.2408G>C (AXDND1)	XP_011507481.1:p.Ter803Ser
XM_011509181.2:c.1967G>C (AXDND1)	XP_011507483.1:p.Ter656Ser
XM_017000257.2:c.2303G>C (AXDND1)	XP_016855746.1:p.Ter768Ser
XM_017000258.2:c.2165G>C (AXDND1)	XP_016855747.1:p.Ter722Ser
XM_017002298.1:c.462-1837C>G (NPHS2)	XP_016857787.1:n.462-1837C>G
XM_017002299.1:c.535-1837C>G (NPHS2)	XP_016857788.1:n.535-1837C>G
XM_024453104.1:c.2918G>C (AXDND1)	XP_024308872.1:p.Ter973Ser
XM_024453107.1:c.2918G>C (AXDND1)	XP_024308875.1:p.Ter973Ser
NM_144696.6:c.3038G>C (AXDND1) MANE Select	NP_653297.3:p.Ter1013Ser
NM_001297575.2:c.548C>G (NPHS2)	NP_001284504.1:p.Ser183Ter
NM_014625.4:c.752C>G (NPHS2) MANE Select	NP_055440.1:p.Ser251Ter
NR_073544.2:n.3086G>C (AXDND1)