Canonical Allele Identifier: CA3423486
Community Standard Title: NM_001300921.2(PKD2L2):c.1120A>G (p.Ile374Val)
Gene: PKD2L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137907886A>G , CM000667.2:g.137907886A>G GRCh38
NC_000005.9:g.137243575A>G , CM000667.1:g.137243575A>G GRCh37
NC_000005.8:g.137271474A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001300921.2:c.1120A>G MANE Select NP_001287850.1:p.Ile374Val
ENST00000508883.6:c.1120A>G MANE Select ENSP00000424725.1:p.Ile374Val
NM_001258448.1:c.1054A>G NP_001245377.1:p.Ile352Val
NM_001258448.2:c.1054A>G NP_001245377.1:p.Ile352Val
NM_001258449.1:c.1120A>G NP_001245378.1:p.Ile374Val
NM_001258449.2:c.1120A>G NP_001245378.1:p.Ile374Val
NM_001300921.1:c.1120A>G NP_001287850.1:p.Ile374Val
NM_014386.3:c.1120A>G NP_055201.2:p.Ile374Val
NM_014386.4:c.1120A>G NP_055201.2:p.Ile374Val
ENST00000290431.5:c.1120A>G ENSP00000290431.5:p.Ile374Val
ENST00000502810.5:c.1054A>G ENSP00000425513.1:p.Ile352Val
ENST00000508638.5:c.1120A>G ENSP00000423382.1:p.Ile374Val
ENST00000508883.5:c.1120A>G ENSP00000424725.1:p.Ile374Val
XM_011543312.1:c.1348A>G XP_011541614.1:p.Ile450Val
XM_011543313.1:c.1348A>G XP_011541615.1:p.Ile450Val
XM_011543314.1:c.1282A>G XP_011541616.1:p.Ile428Val
XM_011543315.1:c.1240A>G XP_011541617.1:p.Ile414Val
XM_011543316.1:c.1126A>G XP_011541618.1:p.Ile376Val
XM_011543317.1:c.1348A>G XP_011541619.1:p.Ile450Val
XM_011543318.1:c.1018A>G XP_011541620.1:p.Ile340Val
XM_011543318.3:c.1018A>G XP_011541620.1:p.Ile340Val
XM_011543319.1:c.976A>G XP_011541621.1:p.Ile326Val
XM_011543320.1:c.976A>G XP_011541622.1:p.Ile326Val
XM_011543321.1:c.940A>G XP_011541623.1:p.Ile314Val
XM_011543321.2:c.940A>G XP_011541623.1:p.Ile314Val
XM_011543322.1:c.1203+1452A>G XP_011541624.1:n.1203+1452A>G
XM_017009343.2:c.1120A>G XP_016864832.1:p.Ile374Val
XM_017009344.2:c.940A>G XP_016864833.1:p.Ile314Val
XM_017009345.2:c.898A>G XP_016864834.1:p.Ile300Val
XM_024446025.1:c.1120A>G XP_024301793.1:p.Ile374Val
XM_024446026.1:c.1054A>G XP_024301794.1:p.Ile352Val
XM_024446027.1:c.1120A>G XP_024301795.1:p.Ile374Val
XM_024446028.1:c.940A>G XP_024301796.1:p.Ile314Val