Canonical Allele Identifier: CA565723021
Gene: JARID2 HGNC NCBI

Linked Data

dbSNP Id: rs1192593733
gnomAD v2: 6-15268123-A-T
gnomAD v3: 6-15267892-A-T
gnomAD v4: 6-15267892-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15267892A>T , CM000668.2:g.15267892A>T GRCh38
NC_000006.11:g.15268123A>T , CM000668.1:g.15268123A>T GRCh37
NC_000006.10:g.15376102A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000341776.7:c.45+21308A>T MANE Select ENSP00000341280.2:n.45+21308A>T
ENST00000341776.6:c.45+21308A>T ENSP00000341280.2:n.45+21308A>T
ENST00000397311.4:c.-472+18928A>T ENSP00000380478.3:n.-472+18928A>T
NM_001267040.1:c.-472+18928A>T NP_001253969.1:n.-472+18928A>T
NM_004973.3:c.45+21308A>T NP_004964.2:n.45+21308A>T
XM_005249089.2:c.-330+18928A>T XP_005249146.1:n.-330+18928A>T
XM_011514578.1:c.-517+18928A>T XP_011512880.1:n.-517+18928A>T
XM_011514579.1:c.45+21308A>T XP_011512881.1:n.45+21308A>T
XM_011514580.1:c.45+21308A>T XP_011512882.1:n.45+21308A>T
XM_011514582.1:c.-194+21308A>T XP_011512884.1:n.-194+21308A>T
XM_011514579.3:c.45+21308A>T XP_011512881.1:n.45+21308A>T
XM_017010833.2:c.45+21308A>T XP_016866322.1:n.45+21308A>T
XM_017010834.2:c.-330+21308A>T XP_016866323.1:n.-330+21308A>T
NM_004973.4:c.45+21308A>T MANE Select NP_004964.2:n.45+21308A>T