Canonical Allele Identifier: CA1829626787
Gene: JAK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4988761C>A , CM000671.2:g.4988761C>A GRCh38
NC_000009.11:g.4988761C>A , CM000671.1:g.4988761C>A GRCh37
NC_000009.10:g.4978761C>A NCBI36
NG_009904.1:g.8517C>A , LRG_612:g.8517C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381652.4:c.-26+2739C>A MANE Select ENSP00000371067.4:n.-26+2739C>A
ENST00000636127.1:c.-26+2739C>A ENSP00000489812.1:n.-26+2739C>A
ENST00000381652.3:c.-26+2739C>A ENSP00000371067.3:n.-26+2739C>A
ENST00000476574.5:n.224+2739C>A
NM_004972.3:c.-26+2739C>A , LRG_612t1:c.-26+2739C>A NP_004963.1:n.-26+2739C>A
NM_001322194.1:c.-26+2739C>A NP_001309123.1:n.-26+2739C>A
NM_001322195.1:c.-26+3588C>A NP_001309124.1:n.-26+3588C>A
NM_001322196.1:c.-26+3131C>A NP_001309125.1:n.-26+3131C>A
NM_001322198.1:c.-1146+2739C>A NP_001309127.1:n.-1146+2739C>A
NM_001322199.1:c.-1146+2739C>A NP_001309128.1:n.-1146+2739C>A
NM_004972.4:c.-26+2739C>A MANE Select NP_004963.1:n.-26+2739C>A
NM_001322194.2:c.-26+2739C>A NP_001309123.1:n.-26+2739C>A
NM_001322195.2:c.-26+3588C>A NP_001309124.1:n.-26+3588C>A
NM_001322196.2:c.-26+3131C>A NP_001309125.1:n.-26+3131C>A
NM_001322198.2:c.-1146+2739C>A NP_001309127.1:n.-1146+2739C>A
NM_001322199.2:c.-1146+2739C>A NP_001309128.1:n.-1146+2739C>A
NR_169763.1:n.459+2739C>A
NR_169764.1:n.376+3996C>A