Canonical Allele Identifier: CA13119927
Gene: JAK2 HGNC NCBI

Linked Data

dbSNP Id: rs2274471
gnomAD v2: 9-4985879-A-G
gnomAD v3: 9-4985879-A-G
gnomAD v4: 9-4985879-A-G
MyVariant Identifiers: chr9:g.4985879A>G (hg19) chr9:g.4985879A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4985879A>G , CM000671.2:g.4985879A>G GRCh38
NC_000009.11:g.4985879A>G , CM000671.1:g.4985879A>G GRCh37
NC_000009.10:g.4975879A>G NCBI36
NG_009904.1:g.5635A>G , LRG_612:g.5635A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381652.4:c.-108-61A>G MANE Select ENSP00000371067.4:n.-108-61A>G
ENST00000636127.1:c.-108-61A>G ENSP00000489812.1:n.-108-61A>G
ENST00000381652.3:c.-108-61A>G ENSP00000371067.3:n.-108-61A>G
ENST00000476574.5:n.142-61A>G
NM_004972.3:c.-108-61A>G , LRG_612t1:c.-108-61A>G NP_004963.1:n.-108-61A>G
NM_001322194.1:c.-108-61A>G NP_001309123.1:n.-108-61A>G
NM_001322195.1:c.-26+706A>G NP_001309124.1:n.-26+706A>G
NM_001322196.1:c.-26+249A>G NP_001309125.1:n.-26+249A>G
NM_001322198.1:c.-1228-61A>G NP_001309127.1:n.-1228-61A>G
NM_001322199.1:c.-1228-61A>G NP_001309128.1:n.-1228-61A>G
NM_004972.4:c.-108-61A>G MANE Select NP_004963.1:n.-108-61A>G
NM_001322194.2:c.-108-61A>G NP_001309123.1:n.-108-61A>G
NM_001322195.2:c.-26+706A>G NP_001309124.1:n.-26+706A>G
NM_001322196.2:c.-26+249A>G NP_001309125.1:n.-26+249A>G
NM_001322198.2:c.-1228-61A>G NP_001309127.1:n.-1228-61A>G
NM_001322199.2:c.-1228-61A>G NP_001309128.1:n.-1228-61A>G
NR_169763.1:n.377-61A>G
NR_169764.1:n.376+1114A>G
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