Canonical Allele Identifier: CA382805216

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373956T>C (hg19) ; chr11:g.118503241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503241T>C , CM000673.2:g.118503241T>C	GRCh38
NC_000011.9:g.118373956T>C , CM000673.1:g.118373956T>C	GRCh37
NC_000011.8:g.117879166T>C	NCBI36
NG_027813.1:g.71752T>C , LRG_613:g.71752T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7448T>C	ENSP00000432391.3:p.Leu2483Ser
ENST00000710560.1:c.7439T>C	ENSP00000518343.1:p.Leu2480Ser
ENST00000649878.2:c.1388T>C	ENSP00000497891.2:p.Leu463Ser
ENST00000685397.1:c.1388T>C	ENSP00000509586.1:p.Leu463Ser
ENST00000686370.1:c.1388T>C	ENSP00000509179.1:p.Leu463Ser
ENST00000689424.1:c.1646T>C	ENSP00000509852.1:p.Leu549Ser
ENST00000691053.1:c.7421T>C	ENSP00000509168.1:p.Leu2474Ser
ENST00000389506.10:c.7340T>C	ENSP00000374157.5:p.Leu2447Ser
ENST00000528278.2:n.6691T>C
ENST00000534358.8:c.7349T>C MANE Select	ENSP00000436786.2:p.Leu2450Ser
ENST00000649699.1:c.7226T>C	ENSP00000496927.1:p.Leu2409Ser
ENST00000389506.9:c.7340T>C	ENSP00000374157.5:p.Leu2447Ser
ENST00000528278.1:n.1476T>C
ENST00000534358.5:c.7349T>C	ENSP00000436786.1:p.Leu2450Ser
NM_001197104.1:c.7349T>C , LRG_613t1:c.7349T>C	NP_001184033.1:p.Leu2450Ser
NM_005933.3:c.7340T>C	NP_005924.2:p.Leu2447Ser
XM_006718839.2:c.4832T>C	XP_006718902.2:p.Leu1611Ser
XM_011542829.1:c.7448T>C	XP_011541131.1:p.Leu2483Ser
XM_011542830.1:c.7445T>C	XP_011541132.1:p.Leu2482Ser
XM_011542831.1:c.7439T>C	XP_011541133.1:p.Leu2480Ser
XM_011542832.1:c.5255T>C	XP_011541134.1:p.Leu1752Ser
XM_011542833.1:c.4931T>C	XP_011541135.1:p.Leu1644Ser
XM_006718839.3:c.4832T>C	XP_006718902.2:p.Leu1611Ser
XM_011542829.2:c.7448T>C	XP_011541131.1:p.Leu2483Ser
XM_011542830.2:c.7445T>C	XP_011541132.1:p.Leu2482Ser
XM_011542831.2:c.7439T>C	XP_011541133.1:p.Leu2480Ser
XM_011542833.2:c.4931T>C	XP_011541135.1:p.Leu1644Ser
NM_001197104.2:c.7349T>C MANE Select	NP_001184033.1:p.Leu2450Ser
NM_005933.4:c.7340T>C	NP_005924.2:p.Leu2447Ser