Canonical Allele Identifier: CA2689309599

Gene: JAK2 INSL6

Linked Data

• gnomAD v4: 9-5078257-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078257C>A , CM000671.2:g.5078257C>A	GRCh38
NC_000009.11:g.5078257C>A , CM000671.1:g.5078257C>A	GRCh37
NC_000009.10:g.5068257C>A	NCBI36
NG_009904.1:g.98013C>A , LRG_612:g.98013C>A
NG_046969.1:g.112454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.1993-49C>A (JAK2) MANE Select	ENSP00000371067.4:n.1993-49C>A
ENST00000636127.1:c.1993-49C>A (JAK2)	ENSP00000489812.1:n.1993-49C>A
ENST00000381652.3:c.1993-49C>A (JAK2)	ENSP00000371067.3:n.1993-49C>A
NM_004972.3:c.1993-49C>A , LRG_612t1:c.1993-49C>A (JAK2)	NP_004963.1:n.1993-49C>A
XM_011517701.1:c.377-62913G>T (INSL6)	XP_011516003.1:n.377-62913G>T
XM_011517702.1:c.377-85824G>T (INSL6)	XP_011516004.1:n.377-85824G>T
XR_929169.1:n.485-62913G>T (INSL6)
NM_001322194.1:c.1993-49C>A (JAK2)	NP_001309123.1:n.1993-49C>A
NM_001322195.1:c.1993-49C>A (JAK2)	NP_001309124.1:n.1993-49C>A
NM_001322196.1:c.1993-49C>A (JAK2)	NP_001309125.1:n.1993-49C>A
NM_001322198.1:c.778-49C>A (JAK2)	NP_001309127.1:n.778-49C>A
NM_001322199.1:c.778-49C>A (JAK2)	NP_001309128.1:n.778-49C>A
NM_001322204.1:c.1546-49C>A (JAK2)	NP_001309133.1:n.1546-49C>A
XM_011517702.3:c.377-85824G>T (INSL6)	XP_011516004.1:n.377-85824G>T
NM_004972.4:c.1993-49C>A (JAK2) MANE Select	NP_004963.1:n.1993-49C>A
NM_001322194.2:c.1993-49C>A (JAK2)	NP_001309123.1:n.1993-49C>A
NM_001322195.2:c.1993-49C>A (JAK2)	NP_001309124.1:n.1993-49C>A
NM_001322196.2:c.1993-49C>A (JAK2)	NP_001309125.1:n.1993-49C>A
NM_001322198.2:c.778-49C>A (JAK2)	NP_001309127.1:n.778-49C>A
NM_001322199.2:c.778-49C>A (JAK2)	NP_001309128.1:n.778-49C>A
NM_001322204.2:c.1546-49C>A (JAK2)	NP_001309133.1:n.1546-49C>A
NR_169763.1:n.2477-49C>A (JAK2)
NR_169764.1:n.2394-49C>A (JAK2)