Canonical Allele Identifier: CA479521080

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416427G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022644G>C , CM000674.2:g.49022644G>C	GRCh38
NC_000012.11:g.49416427G>C , CM000674.1:g.49416427G>C	GRCh37
NC_000012.10:g.47702694G>C	NCBI36
NG_027827.1:g.37681C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.254C>G
ENST00000681974.1:n.956C>G
ENST00000682693.1:n.1918C>G
ENST00000682886.1:n.454C>G
ENST00000683543.2:c.16332C>G	ENSP00000506726.1:p.Gly5444=
ENST00000683988.1:c.255C>G	ENSP00000506939.1:p.Gly85=
ENST00000684428.1:c.819C>G	ENSP00000507433.1:p.Gly273=
ENST00000684755.1:n.867C>G
ENST00000685024.1:c.1438C>G
ENST00000685166.1:c.16293C>G	ENSP00000509386.1:p.Gly5431=
ENST00000688411.1:c.761C>G	ENSP00000510146.1:n.761C>G
ENST00000691932.1:c.285C>G	ENSP00000509037.1:p.Gly95=
ENST00000692637.1:c.16281C>G	ENSP00000509666.1:p.Gly5427=
ENST00000301067.12:c.16284C>G MANE Select	ENSP00000301067.7:p.Gly5428=
ENST00000301067.11:c.16284C>G	ENSP00000301067.7:p.Gly5428=
ENST00000526209.1:c.327C>G	ENSP00000435714.1:p.Gly109=
NM_003482.3:c.16284C>G	NP_003473.3:p.Gly5428=
XM_005269162.3:c.16284C>G	XP_005269219.1:p.Gly5428=
XM_006719614.2:c.16293C>G	XP_006719677.1:p.Gly5431=
XM_006719616.2:c.16281C>G	XP_006719679.1:p.Gly5427=
XM_011538770.1:c.16341C>G	XP_011537072.1:p.Gly5447=
XM_011538771.1:c.16338C>G	XP_011537073.1:p.Gly5446=
XM_011538772.1:c.16332C>G	XP_011537074.1:p.Gly5444=
XM_011538773.1:c.16329C>G	XP_011537075.1:p.Gly5443=
XM_011538774.1:c.16320C>G	XP_011537076.1:p.Gly5440=
XM_011538775.1:c.16275C>G	XP_011537077.1:p.Gly5425=
XM_011538776.1:c.16248C>G	XP_011537078.1:p.Gly5416=
XM_005269162.4:c.16284C>G	XP_005269219.1:p.Gly5428=
XM_006719614.4:c.16293C>G	XP_006719677.1:p.Gly5431=
XM_006719616.3:c.16281C>G	XP_006719679.1:p.Gly5427=
XM_011538770.2:c.16341C>G	XP_011537072.1:p.Gly5447=
XM_011538771.2:c.16338C>G	XP_011537073.1:p.Gly5446=
XM_011538772.2:c.16332C>G	XP_011537074.1:p.Gly5444=
XM_011538773.2:c.16329C>G	XP_011537075.1:p.Gly5443=
XM_011538774.2:c.16320C>G	XP_011537076.1:p.Gly5440=
XM_011538776.2:c.16248C>G	XP_011537078.1:p.Gly5416=
XR_001748874.1:n.16461C>G
NM_003482.4:c.16284C>G MANE Select	NP_003473.3:p.Gly5428=