Canonical Allele Identifier: CA2718754864

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs2130618981

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081868_5081869insTGGGA , CM000671.2:g.5081868_5081869insTGGGA	GRCh38
NC_000009.11:g.5081868_5081869insTGGGA , CM000671.1:g.5081868_5081869insTGGGA	GRCh37
NC_000009.10:g.5071868_5071869insTGGGA	NCBI36
NG_009904.1:g.101624_101625insTGGGA , LRG_612:g.101624_101625insTGGGA
NG_046969.1:g.108842_108843insTCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2571+7_2571+8insTGGGA (JAK2) MANE Select	ENSP00000371067.4:n.2571+7_2571+8insTGGGA
ENST00000381652.3:c.2571+7_2571+8insTGGGA (JAK2)	ENSP00000371067.3:n.2571+7_2571+8insTGGGA
NM_004972.3:c.2571+7_2571+8insTGGGA , LRG_612t1:c.2571+7_2571+8insTGGGA (JAK2)	NP_004963.1:n.2571+7_2571+8insTGGGA
XM_011517701.1:c.377-66525_377-66524insTCCCA (INSL6)	XP_011516003.1:n.377-66525_377-66524insTCCCA
XM_011517702.1:c.376+82310_376+82311insTCCCA (INSL6)	XP_011516004.1:n.376+82310_376+82311insTCCCA
XR_929169.1:n.485-66525_485-66524insTCCCA (INSL6)
NM_001322194.1:c.2571+7_2571+8insTGGGA (JAK2)	NP_001309123.1:n.2571+7_2571+8insTGGGA
NM_001322195.1:c.2571+7_2571+8insTGGGA (JAK2)	NP_001309124.1:n.2571+7_2571+8insTGGGA
NM_001322196.1:c.2571+7_2571+8insTGGGA (JAK2)	NP_001309125.1:n.2571+7_2571+8insTGGGA
NM_001322198.1:c.1356+7_1356+8insTGGGA (JAK2)	NP_001309127.1:n.1356+7_1356+8insTGGGA
NM_001322199.1:c.1356+7_1356+8insTGGGA (JAK2)	NP_001309128.1:n.1356+7_1356+8insTGGGA
NM_001322204.1:c.2124+7_2124+8insTGGGA (JAK2)	NP_001309133.1:n.2124+7_2124+8insTGGGA
XM_011517702.3:c.376+82310_376+82311insTCCCA (INSL6)	XP_011516004.1:n.376+82310_376+82311insTCCCA
NM_004972.4:c.2571+7_2571+8insTGGGA (JAK2) MANE Select	NP_004963.1:n.2571+7_2571+8insTGGGA
NM_001322194.2:c.2571+7_2571+8insTGGGA (JAK2)	NP_001309123.1:n.2571+7_2571+8insTGGGA
NM_001322195.2:c.2571+7_2571+8insTGGGA (JAK2)	NP_001309124.1:n.2571+7_2571+8insTGGGA
NM_001322196.2:c.2571+7_2571+8insTGGGA (JAK2)	NP_001309125.1:n.2571+7_2571+8insTGGGA
NM_001322198.2:c.1356+7_1356+8insTGGGA (JAK2)	NP_001309127.1:n.1356+7_1356+8insTGGGA
NM_001322199.2:c.1356+7_1356+8insTGGGA (JAK2)	NP_001309128.1:n.1356+7_1356+8insTGGGA
NM_001322204.2:c.2124+7_2124+8insTGGGA (JAK2)	NP_001309133.1:n.2124+7_2124+8insTGGGA
NR_169763.1:n.3055+7_3055+8insTGGGA (JAK2)
NR_169764.1:n.2972+7_2972+8insTGGGA (JAK2)