Canonical Allele Identifier: CA372825475

Gene: JAK2 INSL6

Linked Data

• MyVariant Identifiers: chr9:g.5069927A>C (hg19) ; chr9:g.5069927A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5069927A>C , CM000671.2:g.5069927A>C	GRCh38
NC_000009.11:g.5069927A>C , CM000671.1:g.5069927A>C	GRCh37
NC_000009.10:g.5059927A>C	NCBI36
NG_009904.1:g.89683A>C , LRG_612:g.89683A>C
NG_046969.1:g.120784T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.1516A>C (JAK2) MANE Select	ENSP00000371067.4:p.Lys506Gln
ENST00000636127.1:c.1516A>C (JAK2)	ENSP00000489812.1:p.Lys506Gln
ENST00000381652.3:c.1516A>C (JAK2)	ENSP00000371067.3:p.Lys506Gln
NM_004972.3:c.1516A>C , LRG_612t1:c.1516A>C (JAK2)	NP_004963.1:p.Lys506Gln
XM_011517701.1:c.377-54583T>G (INSL6)	XP_011516003.1:n.377-54583T>G
XM_011517702.1:c.377-77494T>G (INSL6)	XP_011516004.1:n.377-77494T>G
XR_929169.1:n.485-54583T>G (INSL6)
NM_001322194.1:c.1516A>C (JAK2)	NP_001309123.1:p.Lys506Gln
NM_001322195.1:c.1516A>C (JAK2)	NP_001309124.1:p.Lys506Gln
NM_001322196.1:c.1516A>C (JAK2)	NP_001309125.1:p.Lys506Gln
NM_001322198.1:c.301A>C (JAK2)	NP_001309127.1:p.Lys101Gln
NM_001322199.1:c.301A>C (JAK2)	NP_001309128.1:p.Lys101Gln
NM_001322204.1:c.1069A>C (JAK2)	NP_001309133.1:p.Lys357Gln
XM_011517702.3:c.377-77494T>G (INSL6)	XP_011516004.1:n.377-77494T>G
NM_004972.4:c.1516A>C (JAK2) MANE Select	NP_004963.1:p.Lys506Gln
NM_001322194.2:c.1516A>C (JAK2)	NP_001309123.1:p.Lys506Gln
NM_001322195.2:c.1516A>C (JAK2)	NP_001309124.1:p.Lys506Gln
NM_001322196.2:c.1516A>C (JAK2)	NP_001309125.1:p.Lys506Gln
NM_001322198.2:c.301A>C (JAK2)	NP_001309127.1:p.Lys101Gln
NM_001322199.2:c.301A>C (JAK2)	NP_001309128.1:p.Lys101Gln
NM_001322204.2:c.1069A>C (JAK2)	NP_001309133.1:p.Lys357Gln
NR_169763.1:n.2000A>C (JAK2)
NR_169764.1:n.1917A>C (JAK2)