Canonical Allele Identifier: CA372827165

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs2130590592
• MyVariant Identifiers: chr9:g.5078366G>C (hg19) ; chr9:g.5078366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078366G>C , CM000671.2:g.5078366G>C	GRCh38
NC_000009.11:g.5078366G>C , CM000671.1:g.5078366G>C	GRCh37
NC_000009.10:g.5068366G>C	NCBI36
NG_009904.1:g.98122G>C , LRG_612:g.98122G>C
NG_046969.1:g.112345C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2053G>C (JAK2) MANE Select	ENSP00000371067.4:p.Glu685Gln
ENST00000636127.1:c.2053G>C (JAK2)	ENSP00000489812.1:p.Glu685Gln
ENST00000381652.3:c.2053G>C (JAK2)	ENSP00000371067.3:p.Glu685Gln
NM_004972.3:c.2053G>C , LRG_612t1:c.2053G>C (JAK2)	NP_004963.1:p.Glu685Gln
XM_011517701.1:c.377-63022C>G (INSL6)	XP_011516003.1:n.377-63022C>G
XM_011517702.1:c.376+85813C>G (INSL6)	XP_011516004.1:n.376+85813C>G
XR_929169.1:n.485-63022C>G (INSL6)
NM_001322194.1:c.2053G>C (JAK2)	NP_001309123.1:p.Glu685Gln
NM_001322195.1:c.2053G>C (JAK2)	NP_001309124.1:p.Glu685Gln
NM_001322196.1:c.2053G>C (JAK2)	NP_001309125.1:p.Glu685Gln
NM_001322198.1:c.838G>C (JAK2)	NP_001309127.1:p.Glu280Gln
NM_001322199.1:c.838G>C (JAK2)	NP_001309128.1:p.Glu280Gln
NM_001322204.1:c.1606G>C (JAK2)	NP_001309133.1:p.Glu536Gln
XM_011517702.3:c.376+85813C>G (INSL6)	XP_011516004.1:n.376+85813C>G
NM_004972.4:c.2053G>C (JAK2) MANE Select	NP_004963.1:p.Glu685Gln
NM_001322194.2:c.2053G>C (JAK2)	NP_001309123.1:p.Glu685Gln
NM_001322195.2:c.2053G>C (JAK2)	NP_001309124.1:p.Glu685Gln
NM_001322196.2:c.2053G>C (JAK2)	NP_001309125.1:p.Glu685Gln
NM_001322198.2:c.838G>C (JAK2)	NP_001309127.1:p.Glu280Gln
NM_001322199.2:c.838G>C (JAK2)	NP_001309128.1:p.Glu280Gln
NM_001322204.2:c.1606G>C (JAK2)	NP_001309133.1:p.Glu536Gln
NR_169763.1:n.2537G>C (JAK2)
NR_169764.1:n.2454G>C (JAK2)