Canonical Allele Identifier: CA382802520

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118502535-C-T
• MyVariant Identifiers: chr11:g.118373250C>T (hg19) ; chr11:g.118502535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502535C>T , CM000673.2:g.118502535C>T	GRCh38
NC_000011.9:g.118373250C>T , CM000673.1:g.118373250C>T	GRCh37
NC_000011.8:g.117878460C>T	NCBI36
NG_027813.1:g.71046C>T , LRG_613:g.71046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6742C>T	ENSP00000432391.3:p.Pro2248Ser
ENST00000710560.1:c.6733C>T	ENSP00000518343.1:p.Pro2245Ser
ENST00000649878.2:c.682C>T	ENSP00000497891.2:p.Pro228Ser
ENST00000685397.1:c.682C>T	ENSP00000509586.1:p.Pro228Ser
ENST00000686370.1:c.682C>T	ENSP00000509179.1:p.Pro228Ser
ENST00000689424.1:c.940C>T	ENSP00000509852.1:p.Pro314Ser
ENST00000691053.1:c.6715C>T	ENSP00000509168.1:p.Pro2239Ser
ENST00000389506.10:c.6634C>T	ENSP00000374157.5:p.Pro2212Ser
ENST00000528278.2:n.5985C>T
ENST00000534358.8:c.6643C>T MANE Select	ENSP00000436786.2:p.Pro2215Ser
ENST00000649699.1:c.6520C>T	ENSP00000496927.1:p.Pro2174Ser
ENST00000389506.9:c.6634C>T	ENSP00000374157.5:p.Pro2212Ser
ENST00000528278.1:n.770C>T
ENST00000534358.5:c.6643C>T	ENSP00000436786.1:p.Pro2215Ser
NM_001197104.1:c.6643C>T , LRG_613t1:c.6643C>T	NP_001184033.1:p.Pro2215Ser
NM_005933.3:c.6634C>T	NP_005924.2:p.Pro2212Ser
XM_006718839.2:c.4126C>T	XP_006718902.2:p.Pro1376Ser
XM_011542829.1:c.6742C>T	XP_011541131.1:p.Pro2248Ser
XM_011542830.1:c.6739C>T	XP_011541132.1:p.Pro2247Ser
XM_011542831.1:c.6733C>T	XP_011541133.1:p.Pro2245Ser
XM_011542832.1:c.4549C>T	XP_011541134.1:p.Pro1517Ser
XM_011542833.1:c.4225C>T	XP_011541135.1:p.Pro1409Ser
XM_006718839.3:c.4126C>T	XP_006718902.2:p.Pro1376Ser
XM_011542829.2:c.6742C>T	XP_011541131.1:p.Pro2248Ser
XM_011542830.2:c.6739C>T	XP_011541132.1:p.Pro2247Ser
XM_011542831.2:c.6733C>T	XP_011541133.1:p.Pro2245Ser
XM_011542833.2:c.4225C>T	XP_011541135.1:p.Pro1409Ser
NM_001197104.2:c.6643C>T MANE Select	NP_001184033.1:p.Pro2215Ser
NM_005933.4:c.6634C>T	NP_005924.2:p.Pro2212Ser