Canonical Allele Identifier: CA382806397

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134393536
• MyVariant Identifiers: chr11:g.118374271C>A (hg19) ; chr11:g.118503556C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503556C>A , CM000673.2:g.118503556C>A	GRCh38
NC_000011.9:g.118374271C>A , CM000673.1:g.118374271C>A	GRCh37
NC_000011.8:g.117879481C>A	NCBI36
NG_027813.1:g.72067C>A , LRG_613:g.72067C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7763C>A	ENSP00000432391.3:p.Ser2588Ter
ENST00000710560.1:c.7754C>A	ENSP00000518343.1:p.Ser2585Ter
ENST00000649878.2:c.1703C>A	ENSP00000497891.2:p.Ser568Ter
ENST00000685397.1:c.1703C>A	ENSP00000509586.1:p.Ser568Ter
ENST00000686370.1:c.1703C>A	ENSP00000509179.1:p.Ser568Ter
ENST00000689424.1:c.1961C>A	ENSP00000509852.1:p.Ser654Ter
ENST00000691053.1:c.7736C>A	ENSP00000509168.1:p.Ser2579Ter
ENST00000389506.10:c.7655C>A	ENSP00000374157.5:p.Ser2552Ter
ENST00000528278.2:n.7006C>A
ENST00000534358.8:c.7664C>A MANE Select	ENSP00000436786.2:p.Ser2555Ter
ENST00000649699.1:c.7541C>A	ENSP00000496927.1:p.Ser2514Ter
ENST00000389506.9:c.7655C>A	ENSP00000374157.5:p.Ser2552Ter
ENST00000528278.1:n.1791C>A
ENST00000534358.5:c.7664C>A	ENSP00000436786.1:p.Ser2555Ter
NM_001197104.1:c.7664C>A , LRG_613t1:c.7664C>A	NP_001184033.1:p.Ser2555Ter
NM_005933.3:c.7655C>A	NP_005924.2:p.Ser2552Ter
XM_006718839.2:c.5147C>A	XP_006718902.2:p.Ser1716Ter
XM_011542829.1:c.7763C>A	XP_011541131.1:p.Ser2588Ter
XM_011542830.1:c.7760C>A	XP_011541132.1:p.Ser2587Ter
XM_011542831.1:c.7754C>A	XP_011541133.1:p.Ser2585Ter
XM_011542832.1:c.5570C>A	XP_011541134.1:p.Ser1857Ter
XM_011542833.1:c.5246C>A	XP_011541135.1:p.Ser1749Ter
XM_006718839.3:c.5147C>A	XP_006718902.2:p.Ser1716Ter
XM_011542829.2:c.7763C>A	XP_011541131.1:p.Ser2588Ter
XM_011542830.2:c.7760C>A	XP_011541132.1:p.Ser2587Ter
XM_011542831.2:c.7754C>A	XP_011541133.1:p.Ser2585Ter
XM_011542833.2:c.5246C>A	XP_011541135.1:p.Ser1749Ter
NM_001197104.2:c.7664C>A MANE Select	NP_001184033.1:p.Ser2555Ter
NM_005933.4:c.7655C>A	NP_005924.2:p.Ser2552Ter