Canonical Allele Identifier: CA12947483
Gene: JAK2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.4988761C>T
GRCh37 chr9:g.4988761C>T
gnomAD v2:
9:4988761 C / T
gnomAD v3:
9:4988761 C / T
gnomAD v4:
chr9-4988761-C-T
Joint Max Group AF 0.76319869 (AFR)
Genomes Max Group AF 0.76319869 (AFR)
dbSNP:
7849191
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Genomic Alleles

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

Transcript Alleles

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