Canonical Allele Identifier: CA372820490

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5054779T>G , CM000671.2:g.5054779T>G	GRCh38
NC_000009.11:g.5054779T>G , CM000671.1:g.5054779T>G	GRCh37
NC_000009.10:g.5044779T>G	NCBI36
NG_009904.1:g.74535T>G , LRG_612:g.74535T>G
NG_046969.1:g.135932A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004972.4:c.831T>G (JAK2) MANE Select	NP_004963.1:p.Ser277Arg
ENST00000381652.4:c.831T>G (JAK2) MANE Select	ENSP00000371067.4:p.Ser277Arg
NM_001322194.1:c.831T>G (JAK2)	NP_001309123.1:p.Ser277Arg
NM_001322194.2:c.831T>G (JAK2)	NP_001309123.1:p.Ser277Arg
NM_001322195.1:c.831T>G (JAK2)	NP_001309124.1:p.Ser277Arg
NM_001322195.2:c.831T>G (JAK2)	NP_001309124.1:p.Ser277Arg
NM_001322196.1:c.831T>G (JAK2)	NP_001309125.1:p.Ser277Arg
NM_001322196.2:c.831T>G (JAK2)	NP_001309125.1:p.Ser277Arg
NM_001322198.1:c.-290T>G (JAK2)	NP_001309127.1:n.-290T>G
NM_001322198.2:c.-290T>G (JAK2)	NP_001309127.1:n.-290T>G
NM_001322199.1:c.-290T>G (JAK2)	NP_001309128.1:n.-290T>G
NM_001322199.2:c.-290T>G (JAK2)	NP_001309128.1:n.-290T>G
NM_001322204.1:c.384T>G (JAK2)	NP_001309133.1:p.Ser128Arg
NM_001322204.2:c.384T>G (JAK2)	NP_001309133.1:p.Ser128Arg
NM_004972.3:c.831T>G , LRG_612t1:c.831T>G (JAK2)	NP_004963.1:p.Ser277Arg
NR_169763.1:n.1315T>G (JAK2)
NR_169764.1:n.1232T>G (JAK2)
ENST00000381652.3:c.831T>G (JAK2)	ENSP00000371067.3:p.Ser277Arg
ENST00000636127.1:c.831T>G (JAK2)	ENSP00000489812.1:p.Ser277Arg
XM_011517701.1:c.377-39435A>C (INSL6)	XP_011516003.1:n.377-39435A>C
XM_011517702.1:c.377-62346A>C (INSL6)	XP_011516004.1:n.377-62346A>C
XM_011517702.3:c.377-62346A>C (INSL6)	XP_011516004.1:n.377-62346A>C
XR_929169.1:n.485-39435A>C (INSL6)