Canonical Allele Identifier: CA4971889

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs753822222
• ExAC: 9:5069939 C / T
• gnomAD v2: 9-5069939-C-T
• gnomAD v3: 9-5069939-C-T
• gnomAD v4: 9-5069939-C-T
• MyVariant Identifiers: chr9:g.5069939C>T (hg19) ; chr9:g.5069939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5069939C>T , CM000671.2:g.5069939C>T	GRCh38
NC_000009.11:g.5069939C>T , CM000671.1:g.5069939C>T	GRCh37
NC_000009.10:g.5059939C>T	NCBI36
NG_009904.1:g.89695C>T , LRG_612:g.89695C>T
NG_046969.1:g.120772G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.1528C>T (JAK2) MANE Select	ENSP00000371067.4:p.Leu510=
ENST00000636127.1:c.1528C>T (JAK2)	ENSP00000489812.1:p.Leu510=
ENST00000381652.3:c.1528C>T (JAK2)	ENSP00000371067.3:p.Leu510=
NM_004972.3:c.1528C>T , LRG_612t1:c.1528C>T (JAK2)	NP_004963.1:p.Leu510=
XM_011517701.1:c.377-54595G>A (INSL6)	XP_011516003.1:n.377-54595G>A
XM_011517702.1:c.377-77506G>A (INSL6)	XP_011516004.1:n.377-77506G>A
XR_929169.1:n.485-54595G>A (INSL6)
NM_001322194.1:c.1528C>T (JAK2)	NP_001309123.1:p.Leu510=
NM_001322195.1:c.1528C>T (JAK2)	NP_001309124.1:p.Leu510=
NM_001322196.1:c.1528C>T (JAK2)	NP_001309125.1:p.Leu510=
NM_001322198.1:c.313C>T (JAK2)	NP_001309127.1:p.Leu105=
NM_001322199.1:c.313C>T (JAK2)	NP_001309128.1:p.Leu105=
NM_001322204.1:c.1081C>T (JAK2)	NP_001309133.1:p.Leu361=
XM_011517702.3:c.377-77506G>A (INSL6)	XP_011516004.1:n.377-77506G>A
NM_004972.4:c.1528C>T (JAK2) MANE Select	NP_004963.1:p.Leu510=
NM_001322194.2:c.1528C>T (JAK2)	NP_001309123.1:p.Leu510=
NM_001322195.2:c.1528C>T (JAK2)	NP_001309124.1:p.Leu510=
NM_001322196.2:c.1528C>T (JAK2)	NP_001309125.1:p.Leu510=
NM_001322198.2:c.313C>T (JAK2)	NP_001309127.1:p.Leu105=
NM_001322199.2:c.313C>T (JAK2)	NP_001309128.1:p.Leu105=
NM_001322204.2:c.1081C>T (JAK2)	NP_001309133.1:p.Leu361=
NR_169763.1:n.2012C>T (JAK2)
NR_169764.1:n.1929C>T (JAK2)