Canonical Allele Identifier: CA479520910

Gene: KMT2D

Linked Data

• dbSNP Id: rs1386561628
• gnomAD v2: 12-49415904-A-G
• gnomAD v4: 12-49022121-A-G
• MyVariant Identifiers: chr12:g.49415904A>G (hg19) ; chr12:g.49022121A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022121A>G , CM000674.2:g.49022121A>G	GRCh38
NC_000012.11:g.49415904A>G , CM000674.1:g.49415904A>G	GRCh37
NC_000012.10:g.47702171A>G	NCBI36
NG_027827.1:g.38204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.413T>C
ENST00000681974.1:n.1115T>C
ENST00000682693.1:n.2077T>C
ENST00000682886.1:n.849T>C
ENST00000683543.2:c.16491T>C	ENSP00000506726.1:p.Cys5497=
ENST00000683988.1:c.414T>C	ENSP00000506939.1:p.Cys138=
ENST00000684428.1:c.1036T>C	ENSP00000507433.1:n.1036T>C
ENST00000685024.1:c.1597T>C
ENST00000685166.1:c.16452T>C	ENSP00000509386.1:p.Cys5484=
ENST00000691932.1:c.444T>C	ENSP00000509037.1:p.Cys148=
ENST00000692637.1:c.16440T>C	ENSP00000509666.1:p.Cys5480=
ENST00000301067.12:c.16443T>C MANE Select	ENSP00000301067.7:p.Cys5481=
ENST00000301067.11:c.16443T>C	ENSP00000301067.7:p.Cys5481=
ENST00000526209.1:c.486T>C	ENSP00000435714.1:p.Cys162=
NM_003482.3:c.16443T>C	NP_003473.3:p.Cys5481=
XM_005269162.3:c.16443T>C	XP_005269219.1:p.Cys5481=
XM_006719614.2:c.16452T>C	XP_006719677.1:p.Cys5484=
XM_006719616.2:c.16440T>C	XP_006719679.1:p.Cys5480=
XM_011538770.1:c.16500T>C	XP_011537072.1:p.Cys5500=
XM_011538771.1:c.16497T>C	XP_011537073.1:p.Cys5499=
XM_011538772.1:c.16491T>C	XP_011537074.1:p.Cys5497=
XM_011538773.1:c.16488T>C	XP_011537075.1:p.Cys5496=
XM_011538774.1:c.16479T>C	XP_011537076.1:p.Cys5493=
XM_011538775.1:c.16434T>C	XP_011537077.1:p.Cys5478=
XM_011538776.1:c.16407T>C	XP_011537078.1:p.Cys5469=
XM_005269162.4:c.16443T>C	XP_005269219.1:p.Cys5481=
XM_006719614.4:c.16452T>C	XP_006719677.1:p.Cys5484=
XM_006719616.3:c.16440T>C	XP_006719679.1:p.Cys5480=
XM_011538770.2:c.16500T>C	XP_011537072.1:p.Cys5500=
XM_011538771.2:c.16497T>C	XP_011537073.1:p.Cys5499=
XM_011538772.2:c.16491T>C	XP_011537074.1:p.Cys5497=
XM_011538773.2:c.16488T>C	XP_011537075.1:p.Cys5496=
XM_011538774.2:c.16479T>C	XP_011537076.1:p.Cys5493=
XM_011538776.2:c.16407T>C	XP_011537078.1:p.Cys5469=
XR_001748874.1:n.16620T>C
NM_003482.4:c.16443T>C MANE Select	NP_003473.3:p.Cys5481=