Canonical Allele Identifier: CA188434691

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs377075634
• gnomAD v4: 9-5078372-A-T
• MyVariant Identifiers: chr9:g.5078372A>T (hg19) ; chr9:g.5078372A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078372A>T , CM000671.2:g.5078372A>T	GRCh38
NC_000009.11:g.5078372A>T , CM000671.1:g.5078372A>T	GRCh37
NC_000009.10:g.5068372A>T	NCBI36
NG_009904.1:g.98128A>T , LRG_612:g.98128A>T
NG_046969.1:g.112339T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2059A>T (JAK2) MANE Select	ENSP00000371067.4:p.Arg687Trp
ENST00000636127.1:c.2059A>T (JAK2)	ENSP00000489812.1:p.Arg687Trp
ENST00000381652.3:c.2059A>T (JAK2)	ENSP00000371067.3:p.Arg687Trp
NM_004972.3:c.2059A>T , LRG_612t1:c.2059A>T (JAK2)	NP_004963.1:p.Arg687Trp
XM_011517701.1:c.377-63028T>A (INSL6)	XP_011516003.1:n.377-63028T>A
XM_011517702.1:c.376+85807T>A (INSL6)	XP_011516004.1:n.376+85807T>A
XR_929169.1:n.485-63028T>A (INSL6)
NM_001322194.1:c.2059A>T (JAK2)	NP_001309123.1:p.Arg687Trp
NM_001322195.1:c.2059A>T (JAK2)	NP_001309124.1:p.Arg687Trp
NM_001322196.1:c.2059A>T (JAK2)	NP_001309125.1:p.Arg687Trp
NM_001322198.1:c.844A>T (JAK2)	NP_001309127.1:p.Arg282Trp
NM_001322199.1:c.844A>T (JAK2)	NP_001309128.1:p.Arg282Trp
NM_001322204.1:c.1612A>T (JAK2)	NP_001309133.1:p.Arg538Trp
XM_011517702.3:c.376+85807T>A (INSL6)	XP_011516004.1:n.376+85807T>A
NM_004972.4:c.2059A>T (JAK2) MANE Select	NP_004963.1:p.Arg687Trp
NM_001322194.2:c.2059A>T (JAK2)	NP_001309123.1:p.Arg687Trp
NM_001322195.2:c.2059A>T (JAK2)	NP_001309124.1:p.Arg687Trp
NM_001322196.2:c.2059A>T (JAK2)	NP_001309125.1:p.Arg687Trp
NM_001322198.2:c.844A>T (JAK2)	NP_001309127.1:p.Arg282Trp
NM_001322199.2:c.844A>T (JAK2)	NP_001309128.1:p.Arg282Trp
NM_001322204.2:c.1612A>T (JAK2)	NP_001309133.1:p.Arg538Trp
NR_169763.1:n.2543A>T (JAK2)
NR_169764.1:n.2460A>T (JAK2)