Canonical Allele Identifier: CA4971606

Linked Data

ClinVar Variation Id: 367122
dbSNP Id: rs2230722
gnomAD v2: 9-5050706-C-T
gnomAD v3: 9-5050706-C-T
gnomAD v4: 9-5050706-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5050706C>T , CM000671.2:g.5050706C>T GRCh38
NC_000009.11:g.5050706C>T , CM000671.1:g.5050706C>T GRCh37
NC_000009.10:g.5040706C>T NCBI36
NG_009904.1:g.70462C>T , LRG_612:g.70462C>T
NG_046969.1:g.140005G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381652.4:c.489C>T (JAK2) MANE Select ENSP00000371067.4:p.His163=
ENST00000636127.1:c.489C>T (JAK2) ENSP00000489812.1:p.His163=
ENST00000381652.3:c.489C>T (JAK2) ENSP00000371067.3:p.His163=
NM_004972.3:c.489C>T , LRG_612t1:c.489C>T (JAK2) NP_004963.1:p.His163=
XM_011517701.1:c.377-35362G>A (INSL6) XP_011516003.1:n.377-35362G>A
XM_011517702.1:c.377-58273G>A (INSL6) XP_011516004.1:n.377-58273G>A
XR_929169.1:n.485-35362G>A (INSL6)
NM_001322194.1:c.489C>T (JAK2) NP_001309123.1:p.His163=
NM_001322195.1:c.489C>T (JAK2) NP_001309124.1:p.His163=
NM_001322196.1:c.489C>T (JAK2) NP_001309125.1:p.His163=
NM_001322198.1:c.-632C>T (JAK2) NP_001309127.1:n.-632C>T
NM_001322199.1:c.-632C>T (JAK2) NP_001309128.1:n.-632C>T
NM_001322204.1:c.42C>T (JAK2) NP_001309133.1:p.His14=
XM_011517702.3:c.377-58273G>A (INSL6) XP_011516004.1:n.377-58273G>A
NM_004972.4:c.489C>T (JAK2) MANE Select NP_004963.1:p.His163=
NM_001322194.2:c.489C>T (JAK2) NP_001309123.1:p.His163=
NM_001322195.2:c.489C>T (JAK2) NP_001309124.1:p.His163=
NM_001322196.2:c.489C>T (JAK2) NP_001309125.1:p.His163=
NM_001322198.2:c.-632C>T (JAK2) NP_001309127.1:n.-632C>T
NM_001322199.2:c.-632C>T (JAK2) NP_001309128.1:n.-632C>T
NM_001322204.2:c.42C>T (JAK2) NP_001309133.1:p.His14=
NR_169763.1:n.973C>T (JAK2)
NR_169764.1:n.890C>T (JAK2)