Canonical Allele Identifier: CA6304421

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2868081
• ClinVar RCV Id: RCV003703133
• dbSNP Id: rs374626588
• ExAC: 11:118374273 A / C
• gnomAD v2: 11-118374273-A-C
• gnomAD v3: 11-118503558-A-C
• gnomAD v4: 11-118503558-A-C
• MyVariant Identifiers: chr11:g.118374273A>C (hg19) ; chr11:g.118503558A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503558A>C , CM000673.2:g.118503558A>C	GRCh38
NC_000011.9:g.118374273A>C , CM000673.1:g.118374273A>C	GRCh37
NC_000011.8:g.117879483A>C	NCBI36
NG_027813.1:g.72069A>C , LRG_613:g.72069A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7765A>C	ENSP00000432391.3:p.Thr2589Pro
ENST00000710560.1:c.7756A>C	ENSP00000518343.1:p.Thr2586Pro
ENST00000649878.2:c.1705A>C	ENSP00000497891.2:p.Thr569Pro
ENST00000685397.1:c.1705A>C	ENSP00000509586.1:p.Thr569Pro
ENST00000686370.1:c.1705A>C	ENSP00000509179.1:p.Thr569Pro
ENST00000689424.1:c.1963A>C	ENSP00000509852.1:p.Thr655Pro
ENST00000691053.1:c.7738A>C	ENSP00000509168.1:p.Thr2580Pro
ENST00000389506.10:c.7657A>C	ENSP00000374157.5:p.Thr2553Pro
ENST00000528278.2:n.7008A>C
ENST00000534358.8:c.7666A>C MANE Select	ENSP00000436786.2:p.Thr2556Pro
ENST00000649699.1:c.7543A>C	ENSP00000496927.1:p.Thr2515Pro
ENST00000389506.9:c.7657A>C	ENSP00000374157.5:p.Thr2553Pro
ENST00000528278.1:n.1793A>C
ENST00000534358.5:c.7666A>C	ENSP00000436786.1:p.Thr2556Pro
NM_001197104.1:c.7666A>C , LRG_613t1:c.7666A>C	NP_001184033.1:p.Thr2556Pro
NM_005933.3:c.7657A>C	NP_005924.2:p.Thr2553Pro
XM_006718839.2:c.5149A>C	XP_006718902.2:p.Thr1717Pro
XM_011542829.1:c.7765A>C	XP_011541131.1:p.Thr2589Pro
XM_011542830.1:c.7762A>C	XP_011541132.1:p.Thr2588Pro
XM_011542831.1:c.7756A>C	XP_011541133.1:p.Thr2586Pro
XM_011542832.1:c.5572A>C	XP_011541134.1:p.Thr1858Pro
XM_011542833.1:c.5248A>C	XP_011541135.1:p.Thr1750Pro
XM_006718839.3:c.5149A>C	XP_006718902.2:p.Thr1717Pro
XM_011542829.2:c.7765A>C	XP_011541131.1:p.Thr2589Pro
XM_011542830.2:c.7762A>C	XP_011541132.1:p.Thr2588Pro
XM_011542831.2:c.7756A>C	XP_011541133.1:p.Thr2586Pro
XM_011542833.2:c.5248A>C	XP_011541135.1:p.Thr1750Pro
NM_001197104.2:c.7666A>C MANE Select	NP_001184033.1:p.Thr2556Pro
NM_005933.4:c.7657A>C	NP_005924.2:p.Thr2553Pro