Canonical Allele Identifier: CA384677529

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416404G>C (hg19) ; chr12:g.49022621G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022621G>C , CM000674.2:g.49022621G>C	GRCh38
NC_000012.11:g.49416404G>C , CM000674.1:g.49416404G>C	GRCh37
NC_000012.10:g.47702671G>C	NCBI36
NG_027827.1:g.37704C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.277C>G
ENST00000681974.1:n.979C>G
ENST00000682693.1:n.1941C>G
ENST00000682886.1:n.477C>G
ENST00000683543.2:c.16355C>G	ENSP00000506726.1:p.Ala5452Gly
ENST00000683988.1:c.278C>G	ENSP00000506939.1:p.Ala93Gly
ENST00000684428.1:c.842C>G	ENSP00000507433.1:p.Ala281Gly
ENST00000684755.1:n.890C>G
ENST00000685024.1:c.1461C>G
ENST00000685166.1:c.16316C>G	ENSP00000509386.1:p.Ala5439Gly
ENST00000688411.1:c.784C>G	ENSP00000510146.1:n.784C>G
ENST00000691932.1:c.308C>G	ENSP00000509037.1:p.Ala103Gly
ENST00000692637.1:c.16304C>G	ENSP00000509666.1:p.Ala5435Gly
ENST00000301067.12:c.16307C>G MANE Select	ENSP00000301067.7:p.Ala5436Gly
ENST00000301067.11:c.16307C>G	ENSP00000301067.7:p.Ala5436Gly
ENST00000526209.1:c.350C>G	ENSP00000435714.1:p.Ala117Gly
NM_003482.3:c.16307C>G	NP_003473.3:p.Ala5436Gly
XM_005269162.3:c.16307C>G	XP_005269219.1:p.Ala5436Gly
XM_006719614.2:c.16316C>G	XP_006719677.1:p.Ala5439Gly
XM_006719616.2:c.16304C>G	XP_006719679.1:p.Ala5435Gly
XM_011538770.1:c.16364C>G	XP_011537072.1:p.Ala5455Gly
XM_011538771.1:c.16361C>G	XP_011537073.1:p.Ala5454Gly
XM_011538772.1:c.16355C>G	XP_011537074.1:p.Ala5452Gly
XM_011538773.1:c.16352C>G	XP_011537075.1:p.Ala5451Gly
XM_011538774.1:c.16343C>G	XP_011537076.1:p.Ala5448Gly
XM_011538775.1:c.16298C>G	XP_011537077.1:p.Ala5433Gly
XM_011538776.1:c.16271C>G	XP_011537078.1:p.Ala5424Gly
XM_005269162.4:c.16307C>G	XP_005269219.1:p.Ala5436Gly
XM_006719614.4:c.16316C>G	XP_006719677.1:p.Ala5439Gly
XM_006719616.3:c.16304C>G	XP_006719679.1:p.Ala5435Gly
XM_011538770.2:c.16364C>G	XP_011537072.1:p.Ala5455Gly
XM_011538771.2:c.16361C>G	XP_011537073.1:p.Ala5454Gly
XM_011538772.2:c.16355C>G	XP_011537074.1:p.Ala5452Gly
XM_011538773.2:c.16352C>G	XP_011537075.1:p.Ala5451Gly
XM_011538774.2:c.16343C>G	XP_011537076.1:p.Ala5448Gly
XM_011538776.2:c.16271C>G	XP_011537078.1:p.Ala5424Gly
XR_001748874.1:n.16484C>G
NM_003482.4:c.16307C>G MANE Select	NP_003473.3:p.Ala5436Gly