Canonical Allele Identifier: CA382834265

Gene: KMT2A

Linked Data

• COSMIC: COSM5609393 ; COSM5609394
• MyVariant Identifiers: chr11:g.118361923C>A (hg19) ; chr11:g.118491208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491208C>A , CM000673.2:g.118491208C>A	GRCh38
NC_000011.9:g.118361923C>A , CM000673.1:g.118361923C>A	GRCh37
NC_000011.8:g.117867133C>A	NCBI36
NG_027813.1:g.59719C>A , LRG_613:g.59719C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4808C>A	ENSP00000432391.3:p.Pro1603His
ENST00000710560.1:c.4808C>A	ENSP00000518343.1:p.Pro1603His
ENST00000685498.1:c.485C>A	ENSP00000509293.1:p.Pro162His
ENST00000691053.1:c.4709C>A	ENSP00000509168.1:p.Pro1570His
ENST00000389506.10:c.4709C>A	ENSP00000374157.5:p.Pro1570His
ENST00000534358.8:c.4709C>A MANE Select	ENSP00000436786.2:p.Pro1570His
ENST00000649699.1:c.4595C>A	ENSP00000496927.1:p.Pro1532His
ENST00000389506.9:c.4709C>A	ENSP00000374157.5:p.Pro1570His
ENST00000392873.3:c.845C>A	ENSP00000376612.3:p.Pro282His
ENST00000534358.5:c.4709C>A	ENSP00000436786.1:p.Pro1570His
NM_001197104.1:c.4709C>A , LRG_613t1:c.4709C>A	NP_001184033.1:p.Pro1570His
NM_005933.3:c.4709C>A	NP_005924.2:p.Pro1570His
XM_006718839.2:c.2192C>A	XP_006718902.2:p.Pro731His
XM_011542829.1:c.4808C>A	XP_011541131.1:p.Pro1603His
XM_011542830.1:c.4805C>A	XP_011541132.1:p.Pro1602His
XM_011542831.1:c.4808C>A	XP_011541133.1:p.Pro1603His
XM_011542832.1:c.2615C>A	XP_011541134.1:p.Pro872His
XM_011542833.1:c.2291C>A	XP_011541135.1:p.Pro764His
XM_006718839.3:c.2192C>A	XP_006718902.2:p.Pro731His
XM_011542829.2:c.4808C>A	XP_011541131.1:p.Pro1603His
XM_011542830.2:c.4805C>A	XP_011541132.1:p.Pro1602His
XM_011542831.2:c.4808C>A	XP_011541133.1:p.Pro1603His
XM_011542833.2:c.2291C>A	XP_011541135.1:p.Pro764His
NM_001197104.2:c.4709C>A MANE Select	NP_001184033.1:p.Pro1570His
NM_005933.4:c.4709C>A	NP_005924.2:p.Pro1570His