Canonical Allele Identifier: CA236646070

Gene: KMT2D

Linked Data

• dbSNP Id: rs749475908
• gnomAD v2: 12-49433050-C-G
• gnomAD v3: 12-49039267-C-G
• gnomAD v4: 12-49039267-C-G
• MyVariant Identifiers: chr12:g.49433050C>G (hg19) ; chr12:g.49039267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039267C>G , CM000674.2:g.49039267C>G	GRCh38
NC_000012.11:g.49433050C>G , CM000674.1:g.49433050C>G	GRCh37
NC_000012.10:g.47719317C>G	NCBI36
NG_027827.1:g.21058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.20G>C
ENST00000683543.2:c.8321G>C	ENSP00000506726.1:p.Arg2774Pro
ENST00000685166.1:c.8330G>C	ENSP00000509386.1:p.Arg2777Pro
ENST00000689060.1:c.2340G>C
ENST00000689143.1:c.1994G>C	ENSP00000509839.1:p.Arg665Pro
ENST00000689944.1:c.2430G>C
ENST00000692637.1:c.8318G>C	ENSP00000509666.1:p.Arg2773Pro
ENST00000301067.12:c.8321G>C MANE Select	ENSP00000301067.7:p.Arg2774Pro
ENST00000301067.11:c.8321G>C	ENSP00000301067.7:p.Arg2774Pro
ENST00000549799.1:n.33G>C
NM_003482.3:c.8321G>C	NP_003473.3:p.Arg2774Pro
XM_005269162.3:c.8321G>C	XP_005269219.1:p.Arg2774Pro
XM_006719614.2:c.8330G>C	XP_006719677.1:p.Arg2777Pro
XM_006719616.2:c.8318G>C	XP_006719679.1:p.Arg2773Pro
XM_011538770.1:c.8330G>C	XP_011537072.1:p.Arg2777Pro
XM_011538771.1:c.8327G>C	XP_011537073.1:p.Arg2776Pro
XM_011538772.1:c.8321G>C	XP_011537074.1:p.Arg2774Pro
XM_011538773.1:c.8318G>C	XP_011537075.1:p.Arg2773Pro
XM_011538774.1:c.8309G>C	XP_011537076.1:p.Arg2770Pro
XM_011538775.1:c.8330G>C	XP_011537077.1:p.Arg2777Pro
XM_011538776.1:c.8237G>C	XP_011537078.1:p.Arg2746Pro
XR_944740.1:n.10650G>C
XM_005269162.4:c.8321G>C	XP_005269219.1:p.Arg2774Pro
XM_006719614.4:c.8330G>C	XP_006719677.1:p.Arg2777Pro
XM_006719616.3:c.8318G>C	XP_006719679.1:p.Arg2773Pro
XM_011538770.2:c.8330G>C	XP_011537072.1:p.Arg2777Pro
XM_011538771.2:c.8327G>C	XP_011537073.1:p.Arg2776Pro
XM_011538772.2:c.8321G>C	XP_011537074.1:p.Arg2774Pro
XM_011538773.2:c.8318G>C	XP_011537075.1:p.Arg2773Pro
XM_011538774.2:c.8309G>C	XP_011537076.1:p.Arg2770Pro
XM_011538776.2:c.8237G>C	XP_011537078.1:p.Arg2746Pro
XR_001748874.1:n.9639G>C
NM_003482.4:c.8321G>C MANE Select	NP_003473.3:p.Arg2774Pro