Canonical Allele Identifier: CA382826474

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1802543
• ClinVar RCV Id: RCV002465382
• MyVariant Identifiers: chr11:g.118350934C>A (hg19) ; chr11:g.118480219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480219C>A , CM000673.2:g.118480219C>A	GRCh38
NC_000011.9:g.118350934C>A , CM000673.1:g.118350934C>A	GRCh37
NC_000011.8:g.117856144C>A	NCBI36
NG_027813.1:g.48730C>A , LRG_613:g.48730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3714C>A	ENSP00000432391.3:p.Tyr1238Ter
ENST00000710560.1:c.3714C>A	ENSP00000518343.1:p.Tyr1238Ter
ENST00000527869.7:c.1197C>A	ENSP00000432652.3:p.Tyr399Ter
ENST00000533790.3:c.1098C>A	ENSP00000436700.3:p.Tyr366Ter
ENST00000649690.2:c.1422C>A	ENSP00000497372.2:p.Tyr474Ter
ENST00000685719.1:c.596C>A
ENST00000691053.1:c.3615C>A	ENSP00000509168.1:p.Tyr1205Ter
ENST00000389506.10:c.3615C>A	ENSP00000374157.5:p.Tyr1205Ter
ENST00000533790.2:c.867C>A	ENSP00000436700.2:p.Tyr289Ter
ENST00000534358.8:c.3615C>A MANE Select	ENSP00000436786.2:p.Tyr1205Ter
ENST00000648261.1:c.2385C>A	ENSP00000498126.1:p.Tyr795Ter
ENST00000649699.1:c.3615C>A	ENSP00000496927.1:p.Tyr1205Ter
ENST00000389506.9:c.3615C>A	ENSP00000374157.5:p.Tyr1205Ter
ENST00000531904.6:c.3714C>A	ENSP00000432391.2:p.Tyr1238Ter
ENST00000534358.5:c.3615C>A	ENSP00000436786.1:p.Tyr1205Ter
NM_001197104.1:c.3615C>A , LRG_613t1:c.3615C>A	NP_001184033.1:p.Tyr1205Ter
NM_005933.3:c.3615C>A	NP_005924.2:p.Tyr1205Ter
XM_006718839.2:c.1098C>A	XP_006718902.2:p.Tyr366Ter
XM_011542829.1:c.3714C>A	XP_011541131.1:p.Tyr1238Ter
XM_011542830.1:c.3714C>A	XP_011541132.1:p.Tyr1238Ter
XM_011542831.1:c.3714C>A	XP_011541133.1:p.Tyr1238Ter
XM_011542832.1:c.1521C>A	XP_011541134.1:p.Tyr507Ter
XM_011542833.1:c.1197C>A	XP_011541135.1:p.Tyr399Ter
XM_006718839.3:c.1098C>A	XP_006718902.2:p.Tyr366Ter
XM_011542829.2:c.3714C>A	XP_011541131.1:p.Tyr1238Ter
XM_011542830.2:c.3714C>A	XP_011541132.1:p.Tyr1238Ter
XM_011542831.2:c.3714C>A	XP_011541133.1:p.Tyr1238Ter
XM_011542833.2:c.1197C>A	XP_011541135.1:p.Tyr399Ter
NM_001197104.2:c.3615C>A MANE Select	NP_001184033.1:p.Tyr1205Ter
NM_005933.4:c.3615C>A	NP_005924.2:p.Tyr1205Ter