Canonical Allele Identifier: CA6304391

Gene: KMT2A

Linked Data

• dbSNP Id: rs782087155
• ExAC: 11:118373945 T / C
• gnomAD v2: 11-118373945-T-C
• gnomAD v4: 11-118503230-T-C
• MyVariant Identifiers: chr11:g.118373945T>C (hg19) ; chr11:g.118503230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503230T>C , CM000673.2:g.118503230T>C	GRCh38
NC_000011.9:g.118373945T>C , CM000673.1:g.118373945T>C	GRCh37
NC_000011.8:g.117879155T>C	NCBI36
NG_027813.1:g.71741T>C , LRG_613:g.71741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7437T>C	ENSP00000432391.3:p.Ser2479=
ENST00000710560.1:c.7428T>C	ENSP00000518343.1:p.Ser2476=
ENST00000649878.2:c.1377T>C	ENSP00000497891.2:p.Ser459=
ENST00000685397.1:c.1377T>C	ENSP00000509586.1:p.Ser459=
ENST00000686370.1:c.1377T>C	ENSP00000509179.1:p.Ser459=
ENST00000689424.1:c.1635T>C	ENSP00000509852.1:p.Ser545=
ENST00000691053.1:c.7410T>C	ENSP00000509168.1:p.Ser2470=
ENST00000389506.10:c.7329T>C	ENSP00000374157.5:p.Ser2443=
ENST00000528278.2:n.6680T>C
ENST00000534358.8:c.7338T>C MANE Select	ENSP00000436786.2:p.Ser2446=
ENST00000649699.1:c.7215T>C	ENSP00000496927.1:p.Ser2405=
ENST00000389506.9:c.7329T>C	ENSP00000374157.5:p.Ser2443=
ENST00000528278.1:n.1465T>C
ENST00000534358.5:c.7338T>C	ENSP00000436786.1:p.Ser2446=
NM_001197104.1:c.7338T>C , LRG_613t1:c.7338T>C	NP_001184033.1:p.Ser2446=
NM_005933.3:c.7329T>C	NP_005924.2:p.Ser2443=
XM_006718839.2:c.4821T>C	XP_006718902.2:p.Ser1607=
XM_011542829.1:c.7437T>C	XP_011541131.1:p.Ser2479=
XM_011542830.1:c.7434T>C	XP_011541132.1:p.Ser2478=
XM_011542831.1:c.7428T>C	XP_011541133.1:p.Ser2476=
XM_011542832.1:c.5244T>C	XP_011541134.1:p.Ser1748=
XM_011542833.1:c.4920T>C	XP_011541135.1:p.Ser1640=
XM_006718839.3:c.4821T>C	XP_006718902.2:p.Ser1607=
XM_011542829.2:c.7437T>C	XP_011541131.1:p.Ser2479=
XM_011542830.2:c.7434T>C	XP_011541132.1:p.Ser2478=
XM_011542831.2:c.7428T>C	XP_011541133.1:p.Ser2476=
XM_011542833.2:c.4920T>C	XP_011541135.1:p.Ser1640=
NM_001197104.2:c.7338T>C MANE Select	NP_001184033.1:p.Ser2446=
NM_005933.4:c.7329T>C	NP_005924.2:p.Ser2443=