Canonical Allele Identifier: CA384708768

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120425345
• gnomAD v4: 12-49031821-G-A
• MyVariant Identifiers: chr12:g.49425604G>A (hg19) ; chr12:g.49031821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031821G>A , CM000674.2:g.49031821G>A	GRCh38
NC_000012.11:g.49425604G>A , CM000674.1:g.49425604G>A	GRCh37
NC_000012.10:g.47711871G>A	NCBI36
NG_027827.1:g.28504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12884C>T	ENSP00000506726.1:p.Ala4295Val
ENST00000685166.1:c.12893C>T	ENSP00000509386.1:p.Ala4298Val
ENST00000685554.1:c.1753-509C>T	ENSP00000508640.1:n.1753-509C>T
ENST00000692637.1:c.12881C>T	ENSP00000509666.1:p.Ala4294Val
ENST00000692841.1:c.4363C>T	ENSP00000508711.1:n.4363C>T
ENST00000301067.12:c.12884C>T MANE Select	ENSP00000301067.7:p.Ala4295Val
ENST00000301067.11:c.12884C>T	ENSP00000301067.7:p.Ala4295Val
NM_003482.3:c.12884C>T	NP_003473.3:p.Ala4295Val
XM_005269162.3:c.12884C>T	XP_005269219.1:p.Ala4295Val
XM_006719614.2:c.12893C>T	XP_006719677.1:p.Ala4298Val
XM_006719616.2:c.12881C>T	XP_006719679.1:p.Ala4294Val
XM_011538770.1:c.12893C>T	XP_011537072.1:p.Ala4298Val
XM_011538771.1:c.12890C>T	XP_011537073.1:p.Ala4297Val
XM_011538772.1:c.12884C>T	XP_011537074.1:p.Ala4295Val
XM_011538773.1:c.12881C>T	XP_011537075.1:p.Ala4294Val
XM_011538774.1:c.12872C>T	XP_011537076.1:p.Ala4291Val
XM_011538775.1:c.12893C>T	XP_011537077.1:p.Ala4298Val
XM_011538776.1:c.12800C>T	XP_011537078.1:p.Ala4267Val
XR_944740.1:n.15213C>T
XM_005269162.4:c.12884C>T	XP_005269219.1:p.Ala4295Val
XM_006719614.4:c.12893C>T	XP_006719677.1:p.Ala4298Val
XM_006719616.3:c.12881C>T	XP_006719679.1:p.Ala4294Val
XM_011538770.2:c.12893C>T	XP_011537072.1:p.Ala4298Val
XM_011538771.2:c.12890C>T	XP_011537073.1:p.Ala4297Val
XM_011538772.2:c.12884C>T	XP_011537074.1:p.Ala4295Val
XM_011538773.2:c.12881C>T	XP_011537075.1:p.Ala4294Val
XM_011538774.2:c.12872C>T	XP_011537076.1:p.Ala4291Val
XM_011538776.2:c.12800C>T	XP_011537078.1:p.Ala4267Val
XR_001748874.1:n.14202C>T
NM_003482.4:c.12884C>T MANE Select	NP_003473.3:p.Ala4295Val