Canonical Allele Identifier: CA2580859442

Gene: JAK2

Genomic Alleles

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

Transcript Alleles

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