Canonical Allele Identifier: CA384676560

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704101
• MyVariant Identifiers: chr12:g.49415932T>G (hg19) ; chr12:g.49022149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022149T>G , CM000674.2:g.49022149T>G	GRCh38
NC_000012.11:g.49415932T>G , CM000674.1:g.49415932T>G	GRCh37
NC_000012.10:g.47702199T>G	NCBI36
NG_027827.1:g.38176A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.385A>C
ENST00000681974.1:n.1087A>C
ENST00000682693.1:n.2049A>C
ENST00000682886.1:n.821A>C
ENST00000683543.2:c.16463A>C	ENSP00000506726.1:p.Tyr5488Ser
ENST00000683988.1:c.386A>C	ENSP00000506939.1:p.Tyr129Ser
ENST00000684428.1:c.1008A>C	ENSP00000507433.1:n.1008A>C
ENST00000685024.1:c.1569A>C
ENST00000685166.1:c.16424A>C	ENSP00000509386.1:p.Tyr5475Ser
ENST00000691932.1:c.416A>C	ENSP00000509037.1:p.Tyr139Ser
ENST00000692637.1:c.16412A>C	ENSP00000509666.1:p.Tyr5471Ser
ENST00000301067.12:c.16415A>C MANE Select	ENSP00000301067.7:p.Tyr5472Ser
ENST00000301067.11:c.16415A>C	ENSP00000301067.7:p.Tyr5472Ser
ENST00000526209.1:c.458A>C	ENSP00000435714.1:p.Tyr153Ser
NM_003482.3:c.16415A>C	NP_003473.3:p.Tyr5472Ser
XM_005269162.3:c.16415A>C	XP_005269219.1:p.Tyr5472Ser
XM_006719614.2:c.16424A>C	XP_006719677.1:p.Tyr5475Ser
XM_006719616.2:c.16412A>C	XP_006719679.1:p.Tyr5471Ser
XM_011538770.1:c.16472A>C	XP_011537072.1:p.Tyr5491Ser
XM_011538771.1:c.16469A>C	XP_011537073.1:p.Tyr5490Ser
XM_011538772.1:c.16463A>C	XP_011537074.1:p.Tyr5488Ser
XM_011538773.1:c.16460A>C	XP_011537075.1:p.Tyr5487Ser
XM_011538774.1:c.16451A>C	XP_011537076.1:p.Tyr5484Ser
XM_011538775.1:c.16406A>C	XP_011537077.1:p.Tyr5469Ser
XM_011538776.1:c.16379A>C	XP_011537078.1:p.Tyr5460Ser
XM_005269162.4:c.16415A>C	XP_005269219.1:p.Tyr5472Ser
XM_006719614.4:c.16424A>C	XP_006719677.1:p.Tyr5475Ser
XM_006719616.3:c.16412A>C	XP_006719679.1:p.Tyr5471Ser
XM_011538770.2:c.16472A>C	XP_011537072.1:p.Tyr5491Ser
XM_011538771.2:c.16469A>C	XP_011537073.1:p.Tyr5490Ser
XM_011538772.2:c.16463A>C	XP_011537074.1:p.Tyr5488Ser
XM_011538773.2:c.16460A>C	XP_011537075.1:p.Tyr5487Ser
XM_011538774.2:c.16451A>C	XP_011537076.1:p.Tyr5484Ser
XM_011538776.2:c.16379A>C	XP_011537078.1:p.Tyr5460Ser
XR_001748874.1:n.16592A>C
NM_003482.4:c.16415A>C MANE Select	NP_003473.3:p.Tyr5472Ser