Canonical Allele Identifier: CA382805650

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134392076
• MyVariant Identifiers: chr11:g.118374063T>C (hg19) ; chr11:g.118503348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503348T>C , CM000673.2:g.118503348T>C	GRCh38
NC_000011.9:g.118374063T>C , CM000673.1:g.118374063T>C	GRCh37
NC_000011.8:g.117879273T>C	NCBI36
NG_027813.1:g.71859T>C , LRG_613:g.71859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7555T>C	ENSP00000432391.3:p.Ser2519Pro
ENST00000710560.1:c.7546T>C	ENSP00000518343.1:p.Ser2516Pro
ENST00000649878.2:c.1495T>C	ENSP00000497891.2:p.Ser499Pro
ENST00000685397.1:c.1495T>C	ENSP00000509586.1:p.Ser499Pro
ENST00000686370.1:c.1495T>C	ENSP00000509179.1:p.Ser499Pro
ENST00000689424.1:c.1753T>C	ENSP00000509852.1:p.Ser585Pro
ENST00000691053.1:c.7528T>C	ENSP00000509168.1:p.Ser2510Pro
ENST00000389506.10:c.7447T>C	ENSP00000374157.5:p.Ser2483Pro
ENST00000528278.2:n.6798T>C
ENST00000534358.8:c.7456T>C MANE Select	ENSP00000436786.2:p.Ser2486Pro
ENST00000649699.1:c.7333T>C	ENSP00000496927.1:p.Ser2445Pro
ENST00000389506.9:c.7447T>C	ENSP00000374157.5:p.Ser2483Pro
ENST00000528278.1:n.1583T>C
ENST00000534358.5:c.7456T>C	ENSP00000436786.1:p.Ser2486Pro
NM_001197104.1:c.7456T>C , LRG_613t1:c.7456T>C	NP_001184033.1:p.Ser2486Pro
NM_005933.3:c.7447T>C	NP_005924.2:p.Ser2483Pro
XM_006718839.2:c.4939T>C	XP_006718902.2:p.Ser1647Pro
XM_011542829.1:c.7555T>C	XP_011541131.1:p.Ser2519Pro
XM_011542830.1:c.7552T>C	XP_011541132.1:p.Ser2518Pro
XM_011542831.1:c.7546T>C	XP_011541133.1:p.Ser2516Pro
XM_011542832.1:c.5362T>C	XP_011541134.1:p.Ser1788Pro
XM_011542833.1:c.5038T>C	XP_011541135.1:p.Ser1680Pro
XM_006718839.3:c.4939T>C	XP_006718902.2:p.Ser1647Pro
XM_011542829.2:c.7555T>C	XP_011541131.1:p.Ser2519Pro
XM_011542830.2:c.7552T>C	XP_011541132.1:p.Ser2518Pro
XM_011542831.2:c.7546T>C	XP_011541133.1:p.Ser2516Pro
XM_011542833.2:c.5038T>C	XP_011541135.1:p.Ser1680Pro
NM_001197104.2:c.7456T>C MANE Select	NP_001184033.1:p.Ser2486Pro
NM_005933.4:c.7447T>C	NP_005924.2:p.Ser2483Pro