Canonical Allele Identifier: CA384703342

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942875570
• MyVariant Identifiers: chr12:g.49424724C>A (hg19) ; chr12:g.49030941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030941C>A , CM000674.2:g.49030941C>A	GRCh38
NC_000012.11:g.49424724C>A , CM000674.1:g.49424724C>A	GRCh37
NC_000012.10:g.47710991C>A	NCBI36
NG_027827.1:g.29384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.323G>T
ENST00000683543.2:c.13623G>T	ENSP00000506726.1:p.Lys4541Asn
ENST00000685166.1:c.13632G>T	ENSP00000509386.1:p.Lys4544Asn
ENST00000685982.1:c.139-173G>T	ENSP00000508613.1:n.139-173G>T
ENST00000691986.1:c.138+234G>T	ENSP00000509196.1:n.138+234G>T
ENST00000692637.1:c.13620G>T	ENSP00000509666.1:p.Lys4540Asn
ENST00000692973.1:c.224G>T	ENSP00000508893.1:n.224G>T
ENST00000301067.12:c.13623G>T MANE Select	ENSP00000301067.7:p.Lys4541Asn
ENST00000301067.11:c.13623G>T	ENSP00000301067.7:p.Lys4541Asn
ENST00000552391.1:n.323G>T
NM_003482.3:c.13623G>T	NP_003473.3:p.Lys4541Asn
XM_005269162.3:c.13623G>T	XP_005269219.1:p.Lys4541Asn
XM_006719614.2:c.13632G>T	XP_006719677.1:p.Lys4544Asn
XM_006719616.2:c.13620G>T	XP_006719679.1:p.Lys4540Asn
XM_011538770.1:c.13632G>T	XP_011537072.1:p.Lys4544Asn
XM_011538771.1:c.13629G>T	XP_011537073.1:p.Lys4543Asn
XM_011538772.1:c.13623G>T	XP_011537074.1:p.Lys4541Asn
XM_011538773.1:c.13620G>T	XP_011537075.1:p.Lys4540Asn
XM_011538774.1:c.13611G>T	XP_011537076.1:p.Lys4537Asn
XM_011538775.1:c.13632G>T	XP_011537077.1:p.Lys4544Asn
XM_011538776.1:c.13539G>T	XP_011537078.1:p.Lys4513Asn
XR_944740.1:n.15952G>T
XM_005269162.4:c.13623G>T	XP_005269219.1:p.Lys4541Asn
XM_006719614.4:c.13632G>T	XP_006719677.1:p.Lys4544Asn
XM_006719616.3:c.13620G>T	XP_006719679.1:p.Lys4540Asn
XM_011538770.2:c.13632G>T	XP_011537072.1:p.Lys4544Asn
XM_011538771.2:c.13629G>T	XP_011537073.1:p.Lys4543Asn
XM_011538772.2:c.13623G>T	XP_011537074.1:p.Lys4541Asn
XM_011538773.2:c.13620G>T	XP_011537075.1:p.Lys4540Asn
XM_011538774.2:c.13611G>T	XP_011537076.1:p.Lys4537Asn
XM_011538776.2:c.13539G>T	XP_011537078.1:p.Lys4513Asn
XR_001748874.1:n.14941G>T
NM_003482.4:c.13623G>T MANE Select	NP_003473.3:p.Lys4541Asn