Canonical Allele Identifier: CA362868732
Community Standard Title: NM_004973.4(JARID2):c.290C>T (p.Ser97Phe)
Gene: JARID2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15410332C>T , CM000668.2:g.15410332C>T GRCh38
NC_000006.11:g.15410563C>T , CM000668.1:g.15410563C>T GRCh37
NC_000006.10:g.15518542C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004973.4:c.290C>T MANE Select NP_004964.2:p.Ser97Phe
ENST00000341776.7:c.290C>T MANE Select ENSP00000341280.2:p.Ser97Phe
NM_001267040.1:c.-227C>T NP_001253969.1:n.-227C>T
NM_004973.3:c.290C>T NP_004964.2:p.Ser97Phe
ENST00000341776.6:c.290C>T ENSP00000341280.2:p.Ser97Phe
ENST00000397311.4:c.-227C>T ENSP00000380478.3:n.-227C>T
XM_005249089.2:c.-194+36080C>T XP_005249146.1:n.-194+36080C>T
XM_011514578.1:c.-272C>T XP_011512880.1:n.-272C>T
XM_011514579.1:c.434C>T XP_011512881.1:p.Ser145Phe
XM_011514579.3:c.434C>T XP_011512881.1:p.Ser145Phe
XM_011514580.1:c.290C>T XP_011512882.1:p.Ser97Phe
XM_011514581.1:c.-272C>T XP_011512883.1:n.-272C>T
XM_011514582.1:c.52C>T XP_011512884.1:p.Leu18Phe
XM_011514583.1:c.52C>T XP_011512885.1:p.Leu18Phe
XM_011514584.1:c.-227C>T XP_011512886.1:n.-227C>T
XM_017010833.2:c.434C>T XP_016866322.1:p.Ser145Phe
XM_017010834.2:c.-194+36080C>T XP_016866323.1:n.-194+36080C>T
XM_017010835.2:c.-239+36080C>T XP_016866324.1:n.-239+36080C>T
XM_024446424.1:c.176C>T XP_024302192.1:p.Ser59Phe