Canonical Allele Identifier: CA384676323

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415911G>T (hg19) ; chr12:g.49022128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022128G>T , CM000674.2:g.49022128G>T	GRCh38
NC_000012.11:g.49415911G>T , CM000674.1:g.49415911G>T	GRCh37
NC_000012.10:g.47702178G>T	NCBI36
NG_027827.1:g.38197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.406C>A
ENST00000681974.1:n.1108C>A
ENST00000682693.1:n.2070C>A
ENST00000682886.1:n.842C>A
ENST00000683543.2:c.16484C>A	ENSP00000506726.1:p.Pro5495His
ENST00000683988.1:c.407C>A	ENSP00000506939.1:p.Pro136His
ENST00000684428.1:c.1029C>A	ENSP00000507433.1:n.1029C>A
ENST00000685024.1:c.1590C>A
ENST00000685166.1:c.16445C>A	ENSP00000509386.1:p.Pro5482His
ENST00000691932.1:c.437C>A	ENSP00000509037.1:p.Pro146His
ENST00000692637.1:c.16433C>A	ENSP00000509666.1:p.Pro5478His
ENST00000301067.12:c.16436C>A MANE Select	ENSP00000301067.7:p.Pro5479His
ENST00000301067.11:c.16436C>A	ENSP00000301067.7:p.Pro5479His
ENST00000526209.1:c.479C>A	ENSP00000435714.1:p.Pro160His
NM_003482.3:c.16436C>A	NP_003473.3:p.Pro5479His
XM_005269162.3:c.16436C>A	XP_005269219.1:p.Pro5479His
XM_006719614.2:c.16445C>A	XP_006719677.1:p.Pro5482His
XM_006719616.2:c.16433C>A	XP_006719679.1:p.Pro5478His
XM_011538770.1:c.16493C>A	XP_011537072.1:p.Pro5498His
XM_011538771.1:c.16490C>A	XP_011537073.1:p.Pro5497His
XM_011538772.1:c.16484C>A	XP_011537074.1:p.Pro5495His
XM_011538773.1:c.16481C>A	XP_011537075.1:p.Pro5494His
XM_011538774.1:c.16472C>A	XP_011537076.1:p.Pro5491His
XM_011538775.1:c.16427C>A	XP_011537077.1:p.Pro5476His
XM_011538776.1:c.16400C>A	XP_011537078.1:p.Pro5467His
XM_005269162.4:c.16436C>A	XP_005269219.1:p.Pro5479His
XM_006719614.4:c.16445C>A	XP_006719677.1:p.Pro5482His
XM_006719616.3:c.16433C>A	XP_006719679.1:p.Pro5478His
XM_011538770.2:c.16493C>A	XP_011537072.1:p.Pro5498His
XM_011538771.2:c.16490C>A	XP_011537073.1:p.Pro5497His
XM_011538772.2:c.16484C>A	XP_011537074.1:p.Pro5495His
XM_011538773.2:c.16481C>A	XP_011537075.1:p.Pro5494His
XM_011538774.2:c.16472C>A	XP_011537076.1:p.Pro5491His
XM_011538776.2:c.16400C>A	XP_011537078.1:p.Pro5467His
XR_001748874.1:n.16613C>A
NM_003482.4:c.16436C>A MANE Select	NP_003473.3:p.Pro5479His