Canonical Allele Identifier: CA463758100

Gene: JAK2 INSL6

Linked Data

• gnomAD v4: 9-5081783-G-A
• MyVariant Identifiers: chr9:g.5081783G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081783G>A , CM000671.2:g.5081783G>A	GRCh38
NC_000009.11:g.5081783G>A , CM000671.1:g.5081783G>A	GRCh37
NC_000009.10:g.5071783G>A	NCBI36
NG_009904.1:g.101539G>A , LRG_612:g.101539G>A
NG_046969.1:g.108928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2493G>A (JAK2) MANE Select	ENSP00000371067.4:p.Gly831=
ENST00000381652.3:c.2493G>A (JAK2)	ENSP00000371067.3:p.Gly831=
NM_004972.3:c.2493G>A , LRG_612t1:c.2493G>A (JAK2)	NP_004963.1:p.Gly831=
XM_011517701.1:c.377-66439C>T (INSL6)	XP_011516003.1:n.377-66439C>T
XM_011517702.1:c.376+82396C>T (INSL6)	XP_011516004.1:n.376+82396C>T
XR_929169.1:n.485-66439C>T (INSL6)
NM_001322194.1:c.2493G>A (JAK2)	NP_001309123.1:p.Gly831=
NM_001322195.1:c.2493G>A (JAK2)	NP_001309124.1:p.Gly831=
NM_001322196.1:c.2493G>A (JAK2)	NP_001309125.1:p.Gly831=
NM_001322198.1:c.1278G>A (JAK2)	NP_001309127.1:p.Gly426=
NM_001322199.1:c.1278G>A (JAK2)	NP_001309128.1:p.Gly426=
NM_001322204.1:c.2046G>A (JAK2)	NP_001309133.1:p.Gly682=
XM_011517702.3:c.376+82396C>T (INSL6)	XP_011516004.1:n.376+82396C>T
NM_004972.4:c.2493G>A (JAK2) MANE Select	NP_004963.1:p.Gly831=
NM_001322194.2:c.2493G>A (JAK2)	NP_001309123.1:p.Gly831=
NM_001322195.2:c.2493G>A (JAK2)	NP_001309124.1:p.Gly831=
NM_001322196.2:c.2493G>A (JAK2)	NP_001309125.1:p.Gly831=
NM_001322198.2:c.1278G>A (JAK2)	NP_001309127.1:p.Gly426=
NM_001322199.2:c.1278G>A (JAK2)	NP_001309128.1:p.Gly426=
NM_001322204.2:c.2046G>A (JAK2)	NP_001309133.1:p.Gly682=
NR_169763.1:n.2977G>A (JAK2)
NR_169764.1:n.2894G>A (JAK2)