Canonical Allele Identifier: CA372827175

Gene: JAK2 INSL6

Linked Data

• MyVariant Identifiers: chr9:g.5078370A>C (hg19) ; chr9:g.5078370A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078370A>C , CM000671.2:g.5078370A>C	GRCh38
NC_000009.11:g.5078370A>C , CM000671.1:g.5078370A>C	GRCh37
NC_000009.10:g.5068370A>C	NCBI36
NG_009904.1:g.98126A>C , LRG_612:g.98126A>C
NG_046969.1:g.112341T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2057A>C (JAK2) MANE Select	ENSP00000371067.4:p.Asp686Ala
ENST00000636127.1:c.2057A>C (JAK2)	ENSP00000489812.1:p.Asp686Ala
ENST00000381652.3:c.2057A>C (JAK2)	ENSP00000371067.3:p.Asp686Ala
NM_004972.3:c.2057A>C , LRG_612t1:c.2057A>C (JAK2)	NP_004963.1:p.Asp686Ala
XM_011517701.1:c.377-63026T>G (INSL6)	XP_011516003.1:n.377-63026T>G
XM_011517702.1:c.376+85809T>G (INSL6)	XP_011516004.1:n.376+85809T>G
XR_929169.1:n.485-63026T>G (INSL6)
NM_001322194.1:c.2057A>C (JAK2)	NP_001309123.1:p.Asp686Ala
NM_001322195.1:c.2057A>C (JAK2)	NP_001309124.1:p.Asp686Ala
NM_001322196.1:c.2057A>C (JAK2)	NP_001309125.1:p.Asp686Ala
NM_001322198.1:c.842A>C (JAK2)	NP_001309127.1:p.Asp281Ala
NM_001322199.1:c.842A>C (JAK2)	NP_001309128.1:p.Asp281Ala
NM_001322204.1:c.1610A>C (JAK2)	NP_001309133.1:p.Asp537Ala
XM_011517702.3:c.376+85809T>G (INSL6)	XP_011516004.1:n.376+85809T>G
NM_004972.4:c.2057A>C (JAK2) MANE Select	NP_004963.1:p.Asp686Ala
NM_001322194.2:c.2057A>C (JAK2)	NP_001309123.1:p.Asp686Ala
NM_001322195.2:c.2057A>C (JAK2)	NP_001309124.1:p.Asp686Ala
NM_001322196.2:c.2057A>C (JAK2)	NP_001309125.1:p.Asp686Ala
NM_001322198.2:c.842A>C (JAK2)	NP_001309127.1:p.Asp281Ala
NM_001322199.2:c.842A>C (JAK2)	NP_001309128.1:p.Asp281Ala
NM_001322204.2:c.1610A>C (JAK2)	NP_001309133.1:p.Asp537Ala
NR_169763.1:n.2541A>C (JAK2)
NR_169764.1:n.2458A>C (JAK2)