Canonical Allele Identifier: CA6304294

Gene: KMT2A

Linked Data

• dbSNP Id: rs782672328
• ExAC: 11:118373274 T / C
• gnomAD v2: 11-118373274-T-C
• gnomAD v4: 11-118502559-T-C
• MyVariant Identifiers: chr11:g.118373274T>C (hg19) ; chr11:g.118502559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502559T>C , CM000673.2:g.118502559T>C	GRCh38
NC_000011.9:g.118373274T>C , CM000673.1:g.118373274T>C	GRCh37
NC_000011.8:g.117878484T>C	NCBI36
NG_027813.1:g.71070T>C , LRG_613:g.71070T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6766T>C	ENSP00000432391.3:p.Ser2256Pro
ENST00000710560.1:c.6757T>C	ENSP00000518343.1:p.Ser2253Pro
ENST00000649878.2:c.706T>C	ENSP00000497891.2:p.Ser236Pro
ENST00000685397.1:c.706T>C	ENSP00000509586.1:p.Ser236Pro
ENST00000686370.1:c.706T>C	ENSP00000509179.1:p.Ser236Pro
ENST00000689424.1:c.964T>C	ENSP00000509852.1:p.Ser322Pro
ENST00000691053.1:c.6739T>C	ENSP00000509168.1:p.Ser2247Pro
ENST00000389506.10:c.6658T>C	ENSP00000374157.5:p.Ser2220Pro
ENST00000528278.2:n.6009T>C
ENST00000534358.8:c.6667T>C MANE Select	ENSP00000436786.2:p.Ser2223Pro
ENST00000649699.1:c.6544T>C	ENSP00000496927.1:p.Ser2182Pro
ENST00000389506.9:c.6658T>C	ENSP00000374157.5:p.Ser2220Pro
ENST00000528278.1:n.794T>C
ENST00000534358.5:c.6667T>C	ENSP00000436786.1:p.Ser2223Pro
NM_001197104.1:c.6667T>C , LRG_613t1:c.6667T>C	NP_001184033.1:p.Ser2223Pro
NM_005933.3:c.6658T>C	NP_005924.2:p.Ser2220Pro
XM_006718839.2:c.4150T>C	XP_006718902.2:p.Ser1384Pro
XM_011542829.1:c.6766T>C	XP_011541131.1:p.Ser2256Pro
XM_011542830.1:c.6763T>C	XP_011541132.1:p.Ser2255Pro
XM_011542831.1:c.6757T>C	XP_011541133.1:p.Ser2253Pro
XM_011542832.1:c.4573T>C	XP_011541134.1:p.Ser1525Pro
XM_011542833.1:c.4249T>C	XP_011541135.1:p.Ser1417Pro
XM_006718839.3:c.4150T>C	XP_006718902.2:p.Ser1384Pro
XM_011542829.2:c.6766T>C	XP_011541131.1:p.Ser2256Pro
XM_011542830.2:c.6763T>C	XP_011541132.1:p.Ser2255Pro
XM_011542831.2:c.6757T>C	XP_011541133.1:p.Ser2253Pro
XM_011542833.2:c.4249T>C	XP_011541135.1:p.Ser1417Pro
NM_001197104.2:c.6667T>C MANE Select	NP_001184033.1:p.Ser2223Pro
NM_005933.4:c.6658T>C	NP_005924.2:p.Ser2220Pro