Canonical Allele Identifier: CA343566489

Gene: NPHS2 AXDND1

Linked Data

• MyVariant Identifiers: chr1:g.179523649C>G (hg19) ; chr1:g.179554514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554514C>G , CM000663.2:g.179554514C>G	GRCh38
NC_000001.10:g.179523649C>G , CM000663.1:g.179523649C>G	GRCh37
NC_000001.9:g.177790272C>G	NCBI36
NG_007535.1:g.26436G>C , LRG_887:g.26436G>C
NG_033075.1:g.193795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.756G>C (NPHS2) MANE Select	ENSP00000356587.4:p.Val252=
ENST00000367618.8:c.3034C>G (AXDND1) MANE Select	ENSP00000356590.3:p.His1012Asp
ENST00000367615.8:c.756G>C (NPHS2)	ENSP00000356587.4:p.Val252=
ENST00000367616.4:c.552G>C (NPHS2)	ENSP00000356588.4:p.Val184=
ENST00000367618.7:c.3034C>G (AXDND1)	ENSP00000356590.3:p.His1012Asp
ENST00000434088.1:c.2614C>G (AXDND1)	ENSP00000391716.1:p.His872Asp
ENST00000457238.6:c.*1013C>G (AXDND1)	ENSP00000416712.3:n.*1013C>G
ENST00000484455.1:n.473C>G (AXDND1)
ENST00000484883.1:n.913C>G (AXDND1)
ENST00000489080.1:n.1638C>G (AXDND1)
ENST00000511157.5:c.*1303C>G (AXDND1)	ENSP00000424373.1:n.*1303C>G
ENST00000617277.4:c.*1209C>G (AXDND1)	ENSP00000482167.1:n.*1209C>G
NM_001297575.1:c.552G>C (NPHS2)	NP_001284504.1:p.Val184=
NM_014625.3:c.756G>C , LRG_887t1:c.756G>C (NPHS2)	NP_055440.1:p.Val252=
NM_144696.5:c.3034C>G (AXDND1)	NP_653297.3:p.His1012Asp
NR_073544.1:n.3154C>G (AXDND1)
XM_005245483.2:c.579G>C (NPHS2)	XP_005245540.1:p.Val193=
XM_006711529.2:c.756G>C (NPHS2)	XP_006711592.1:p.Val252=
XM_011509165.1:c.3040C>G (AXDND1)	XP_011507467.1:p.His1014Asp
XM_011509166.1:c.3040C>G (AXDND1)	XP_011507468.1:p.His1014Asp
XM_011509167.1:c.3040C>G (AXDND1)	XP_011507469.1:p.His1014Asp
XM_011509168.1:c.3040C>G (AXDND1)	XP_011507470.1:p.His1014Asp
XM_011509169.1:c.2977C>G (AXDND1)	XP_011507471.1:p.His993Asp
XM_011509170.1:c.2932C>G (AXDND1)	XP_011507472.1:p.His978Asp
XM_011509171.1:c.2914C>G (AXDND1)	XP_011507473.1:p.His972Asp
XM_011509172.1:c.2914C>G (AXDND1)	XP_011507474.1:p.His972Asp
XM_011509173.1:c.2914C>G (AXDND1)	XP_011507475.1:p.His972Asp
XM_011509174.1:c.2818C>G (AXDND1)	XP_011507476.1:p.His940Asp
XM_011509175.1:c.2812C>G (AXDND1)	XP_011507477.1:p.His938Asp
XM_011509176.1:c.2743C>G (AXDND1)	XP_011507478.1:p.His915Asp
XM_011509179.1:c.2404C>G (AXDND1)	XP_011507481.1:p.His802Asp
XM_011509181.1:c.1963C>G (AXDND1)	XP_011507483.1:p.His655Asp
XM_005245483.3:c.579G>C (NPHS2)	XP_005245540.1:p.Val193=
XM_011509166.3:c.3040C>G (AXDND1)	XP_011507468.1:p.His1014Asp
XM_011509167.3:c.3040C>G (AXDND1)	XP_011507469.1:p.His1014Asp
XM_011509179.2:c.2404C>G (AXDND1)	XP_011507481.1:p.His802Asp
XM_011509181.2:c.1963C>G (AXDND1)	XP_011507483.1:p.His655Asp
XM_017000257.2:c.2299C>G (AXDND1)	XP_016855746.1:p.His767Asp
XM_017000258.2:c.2161C>G (AXDND1)	XP_016855747.1:p.His721Asp
XM_017002298.1:c.462-1833G>C (NPHS2)	XP_016857787.1:n.462-1833G>C
XM_017002299.1:c.535-1833G>C (NPHS2)	XP_016857788.1:n.535-1833G>C
XM_024453104.1:c.2914C>G (AXDND1)	XP_024308872.1:p.His972Asp
XM_024453107.1:c.2914C>G (AXDND1)	XP_024308875.1:p.His972Asp
NM_144696.6:c.3034C>G (AXDND1) MANE Select	NP_653297.3:p.His1012Asp
NM_001297575.2:c.552G>C (NPHS2)	NP_001284504.1:p.Val184=
NM_014625.4:c.756G>C (NPHS2) MANE Select	NP_055440.1:p.Val252=
NR_073544.2:n.3082C>G (AXDND1)