Canonical Allele Identifier: CA463758276

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs1168658789
• gnomAD v2: 9-5081825-A-G
• gnomAD v4: 9-5081825-A-G
• MyVariant Identifiers: chr9:g.5081825A>G (hg19) ; chr9:g.5081825A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081825A>G , CM000671.2:g.5081825A>G	GRCh38
NC_000009.11:g.5081825A>G , CM000671.1:g.5081825A>G	GRCh37
NC_000009.10:g.5071825A>G	NCBI36
NG_009904.1:g.101581A>G , LRG_612:g.101581A>G
NG_046969.1:g.108886T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2535A>G (JAK2) MANE Select	ENSP00000371067.4:p.Glu845=
ENST00000381652.3:c.2535A>G (JAK2)	ENSP00000371067.3:p.Glu845=
NM_004972.3:c.2535A>G , LRG_612t1:c.2535A>G (JAK2)	NP_004963.1:p.Glu845=
XM_011517701.1:c.377-66481T>C (INSL6)	XP_011516003.1:n.377-66481T>C
XM_011517702.1:c.376+82354T>C (INSL6)	XP_011516004.1:n.376+82354T>C
XR_929169.1:n.485-66481T>C (INSL6)
NM_001322194.1:c.2535A>G (JAK2)	NP_001309123.1:p.Glu845=
NM_001322195.1:c.2535A>G (JAK2)	NP_001309124.1:p.Glu845=
NM_001322196.1:c.2535A>G (JAK2)	NP_001309125.1:p.Glu845=
NM_001322198.1:c.1320A>G (JAK2)	NP_001309127.1:p.Glu440=
NM_001322199.1:c.1320A>G (JAK2)	NP_001309128.1:p.Glu440=
NM_001322204.1:c.2088A>G (JAK2)	NP_001309133.1:p.Glu696=
XM_011517702.3:c.376+82354T>C (INSL6)	XP_011516004.1:n.376+82354T>C
NM_004972.4:c.2535A>G (JAK2) MANE Select	NP_004963.1:p.Glu845=
NM_001322194.2:c.2535A>G (JAK2)	NP_001309123.1:p.Glu845=
NM_001322195.2:c.2535A>G (JAK2)	NP_001309124.1:p.Glu845=
NM_001322196.2:c.2535A>G (JAK2)	NP_001309125.1:p.Glu845=
NM_001322198.2:c.1320A>G (JAK2)	NP_001309127.1:p.Glu440=
NM_001322199.2:c.1320A>G (JAK2)	NP_001309128.1:p.Glu440=
NM_001322204.2:c.2088A>G (JAK2)	NP_001309133.1:p.Glu696=
NR_169763.1:n.3019A>G (JAK2)
NR_169764.1:n.2936A>G (JAK2)