Canonical Allele Identifier: CA382815857

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134269778
• MyVariant Identifiers: chr11:g.118344392A>T (hg19) ; chr11:g.118473677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118473677A>T , CM000673.2:g.118473677A>T	GRCh38
NC_000011.9:g.118344392A>T , CM000673.1:g.118344392A>T	GRCh37
NC_000011.8:g.117849602A>T	NCBI36
NG_027813.1:g.42188A>T , LRG_613:g.42188A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.2617A>T	ENSP00000432391.3:p.Thr873Ser
ENST00000710560.1:c.2617A>T	ENSP00000518343.1:p.Thr873Ser
ENST00000527869.7:c.602-502A>T	ENSP00000432652.3:n.602-502A>T
ENST00000533790.3:c.503-502A>T	ENSP00000436700.3:n.503-502A>T
ENST00000649690.2:c.827-502A>T	ENSP00000497372.2:n.827-502A>T
ENST00000691053.1:c.2518A>T	ENSP00000509168.1:p.Thr840Ser
ENST00000389506.10:c.2518A>T	ENSP00000374157.5:p.Thr840Ser
ENST00000533790.2:c.272-502A>T	ENSP00000436700.2:n.272-502A>T
ENST00000534358.8:c.2518A>T MANE Select	ENSP00000436786.2:p.Thr840Ser
ENST00000648261.1:c.1288A>T	ENSP00000498126.1:p.Thr430Ser
ENST00000649690.1:c.413-502A>T	ENSP00000497372.1:n.413-502A>T
ENST00000649699.1:c.2518A>T	ENSP00000496927.1:p.Thr840Ser
ENST00000389506.9:c.2518A>T	ENSP00000374157.5:p.Thr840Ser
ENST00000527869.6:c.353-502A>T	ENSP00000432652.2:n.353-502A>T
ENST00000531904.6:c.2617A>T	ENSP00000432391.2:p.Thr873Ser
ENST00000533790.1:c.254-502A>T	ENSP00000436700.1:n.254-502A>T
ENST00000534358.5:c.2518A>T	ENSP00000436786.1:p.Thr840Ser
NM_001197104.1:c.2518A>T , LRG_613t1:c.2518A>T	NP_001184033.1:p.Thr840Ser
NM_005933.3:c.2518A>T	NP_005924.2:p.Thr840Ser
XM_006718839.2:c.503-502A>T	XP_006718902.2:n.503-502A>T
XM_011542829.1:c.2617A>T	XP_011541131.1:p.Thr873Ser
XM_011542830.1:c.2617A>T	XP_011541132.1:p.Thr873Ser
XM_011542831.1:c.2617A>T	XP_011541133.1:p.Thr873Ser
XM_011542832.1:c.926-502A>T	XP_011541134.1:n.926-502A>T
XM_011542833.1:c.602-502A>T	XP_011541135.1:n.602-502A>T
XM_006718839.3:c.503-502A>T	XP_006718902.2:n.503-502A>T
XM_011542829.2:c.2617A>T	XP_011541131.1:p.Thr873Ser
XM_011542830.2:c.2617A>T	XP_011541132.1:p.Thr873Ser
XM_011542831.2:c.2617A>T	XP_011541133.1:p.Thr873Ser
XM_011542833.2:c.602-502A>T	XP_011541135.1:n.602-502A>T
NM_001197104.2:c.2518A>T MANE Select	NP_001184033.1:p.Thr840Ser
NM_005933.4:c.2518A>T	NP_005924.2:p.Thr840Ser