Canonical Allele Identifier: CA645547518

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs2130556948
• COSMIC: COSM25834

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5073769_5073770delinsCT , CM000671.2:g.5073769_5073770delinsCT	GRCh38
NC_000009.11:g.5073769_5073770delinsCT , CM000671.1:g.5073769_5073770delinsCT	GRCh37
NC_000009.10:g.5063769_5063770delinsCT	NCBI36
NG_009904.1:g.93525_93526delinsCT , LRG_612:g.93525_93526delinsCT
NG_046969.1:g.116941_116942delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.1848_1849delinsCT (JAK2) MANE Select	ENSP00000371067.4:p.Val617Phe
ENST00000636127.1:c.1848_1849delinsCT (JAK2)	ENSP00000489812.1:p.Val617Phe
ENST00000381652.3:c.1848_1849delinsCT (JAK2)	ENSP00000371067.3:p.Val617Phe
NM_004972.3:c.1848_1849delinsCT , LRG_612t1:c.1848_1849delinsCT (JAK2)	NP_004963.1:p.Val617Phe
XM_011517701.1:c.377-58426_377-58425delinsAG (INSL6)	XP_011516003.1:n.377-58426_377-58425delinsAG
XM_011517702.1:c.377-81337_377-81336delinsAG (INSL6)	XP_011516004.1:n.377-81337_377-81336delinsAG
XR_929169.1:n.485-58426_485-58425delinsAG (INSL6)
NM_001322194.1:c.1848_1849delinsCT (JAK2)	NP_001309123.1:p.Val617Phe
NM_001322195.1:c.1848_1849delinsCT (JAK2)	NP_001309124.1:p.Val617Phe
NM_001322196.1:c.1848_1849delinsCT (JAK2)	NP_001309125.1:p.Val617Phe
NM_001322198.1:c.633_634delinsCT (JAK2)	NP_001309127.1:p.Val212Phe
NM_001322199.1:c.633_634delinsCT (JAK2)	NP_001309128.1:p.Val212Phe
NM_001322204.1:c.1401_1402delinsCT (JAK2)	NP_001309133.1:p.Val468Phe
XM_011517702.3:c.377-81337_377-81336delinsAG (INSL6)	XP_011516004.1:n.377-81337_377-81336delinsAG
NM_004972.4:c.1848_1849delinsCT (JAK2) MANE Select	NP_004963.1:p.Val617Phe
NM_001322194.2:c.1848_1849delinsCT (JAK2)	NP_001309123.1:p.Val617Phe
NM_001322195.2:c.1848_1849delinsCT (JAK2)	NP_001309124.1:p.Val617Phe
NM_001322196.2:c.1848_1849delinsCT (JAK2)	NP_001309125.1:p.Val617Phe
NM_001322198.2:c.633_634delinsCT (JAK2)	NP_001309127.1:p.Val212Phe
NM_001322199.2:c.633_634delinsCT (JAK2)	NP_001309128.1:p.Val212Phe
NM_001322204.2:c.1401_1402delinsCT (JAK2)	NP_001309133.1:p.Val468Phe
NR_169763.1:n.2332_2333delinsCT (JAK2)
NR_169764.1:n.2249_2250delinsCT (JAK2)