Canonical Allele Identifier: CA1829648975

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5069923A= , CM000671.2:g.5069923A= GRCh38
NC_000009.11:g.5069923A= , CM000671.1:g.5069923A= GRCh37
NC_000009.10:g.5059923A= NCBI36
NG_009904.1:g.89679A= , LRG_612:g.89679A=
NG_046969.1:g.120788T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381652.4:c.1514-2A= (JAK2) MANE Select ENSP00000371067.4:n.1514-2A=
ENST00000636127.1:c.1514-2A= (JAK2) ENSP00000489812.1:n.1514-2A=
ENST00000381652.3:c.1514-2A= (JAK2) ENSP00000371067.3:n.1514-2A=
NM_004972.3:c.1514-2A= , LRG_612t1:c.1514-2A= (JAK2) NP_004963.1:n.1514-2A=
XM_011517701.1:c.377-54579T= (INSL6) XP_011516003.1:n.377-54579T=
XM_011517702.1:c.377-77490T= (INSL6) XP_011516004.1:n.377-77490T=
XR_929169.1:n.485-54579T= (INSL6)
NM_001322194.1:c.1514-2A= (JAK2) NP_001309123.1:n.1514-2A=
NM_001322195.1:c.1514-2A= (JAK2) NP_001309124.1:n.1514-2A=
NM_001322196.1:c.1514-2A= (JAK2) NP_001309125.1:n.1514-2A=
NM_001322198.1:c.299-2A= (JAK2) NP_001309127.1:n.299-2A=
NM_001322199.1:c.299-2A= (JAK2) NP_001309128.1:n.299-2A=
NM_001322204.1:c.1067-2A= (JAK2) NP_001309133.1:n.1067-2A=
XM_011517702.3:c.377-77490T= (INSL6) XP_011516004.1:n.377-77490T=
NM_004972.4:c.1514-2A= (JAK2) MANE Select NP_004963.1:n.1514-2A=
NM_001322194.2:c.1514-2A= (JAK2) NP_001309123.1:n.1514-2A=
NM_001322195.2:c.1514-2A= (JAK2) NP_001309124.1:n.1514-2A=
NM_001322196.2:c.1514-2A= (JAK2) NP_001309125.1:n.1514-2A=
NM_001322198.2:c.299-2A= (JAK2) NP_001309127.1:n.299-2A=
NM_001322199.2:c.299-2A= (JAK2) NP_001309128.1:n.299-2A=
NM_001322204.2:c.1067-2A= (JAK2) NP_001309133.1:n.1067-2A=
NR_169763.1:n.1998-2A= (JAK2)
NR_169764.1:n.1915-2A= (JAK2)