Canonical Allele Identifier: CA382805285

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134391490
• MyVariant Identifiers: chr11:g.118373976A>T (hg19) ; chr11:g.118503261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503261A>T , CM000673.2:g.118503261A>T	GRCh38
NC_000011.9:g.118373976A>T , CM000673.1:g.118373976A>T	GRCh37
NC_000011.8:g.117879186A>T	NCBI36
NG_027813.1:g.71772A>T , LRG_613:g.71772A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7468A>T	ENSP00000432391.3:p.Thr2490Ser
ENST00000710560.1:c.7459A>T	ENSP00000518343.1:p.Thr2487Ser
ENST00000649878.2:c.1408A>T	ENSP00000497891.2:p.Thr470Ser
ENST00000685397.1:c.1408A>T	ENSP00000509586.1:p.Thr470Ser
ENST00000686370.1:c.1408A>T	ENSP00000509179.1:p.Thr470Ser
ENST00000689424.1:c.1666A>T	ENSP00000509852.1:p.Thr556Ser
ENST00000691053.1:c.7441A>T	ENSP00000509168.1:p.Thr2481Ser
ENST00000389506.10:c.7360A>T	ENSP00000374157.5:p.Thr2454Ser
ENST00000528278.2:n.6711A>T
ENST00000534358.8:c.7369A>T MANE Select	ENSP00000436786.2:p.Thr2457Ser
ENST00000649699.1:c.7246A>T	ENSP00000496927.1:p.Thr2416Ser
ENST00000389506.9:c.7360A>T	ENSP00000374157.5:p.Thr2454Ser
ENST00000528278.1:n.1496A>T
ENST00000534358.5:c.7369A>T	ENSP00000436786.1:p.Thr2457Ser
NM_001197104.1:c.7369A>T , LRG_613t1:c.7369A>T	NP_001184033.1:p.Thr2457Ser
NM_005933.3:c.7360A>T	NP_005924.2:p.Thr2454Ser
XM_006718839.2:c.4852A>T	XP_006718902.2:p.Thr1618Ser
XM_011542829.1:c.7468A>T	XP_011541131.1:p.Thr2490Ser
XM_011542830.1:c.7465A>T	XP_011541132.1:p.Thr2489Ser
XM_011542831.1:c.7459A>T	XP_011541133.1:p.Thr2487Ser
XM_011542832.1:c.5275A>T	XP_011541134.1:p.Thr1759Ser
XM_011542833.1:c.4951A>T	XP_011541135.1:p.Thr1651Ser
XM_006718839.3:c.4852A>T	XP_006718902.2:p.Thr1618Ser
XM_011542829.2:c.7468A>T	XP_011541131.1:p.Thr2490Ser
XM_011542830.2:c.7465A>T	XP_011541132.1:p.Thr2489Ser
XM_011542831.2:c.7459A>T	XP_011541133.1:p.Thr2487Ser
XM_011542833.2:c.4951A>T	XP_011541135.1:p.Thr1651Ser
NM_001197104.2:c.7369A>T MANE Select	NP_001184033.1:p.Thr2457Ser
NM_005933.4:c.7360A>T	NP_005924.2:p.Thr2454Ser