Canonical Allele Identifier: CA384742519

Gene: KMT2D

Linked Data

• dbSNP Id: rs1943368718
• MyVariant Identifiers: chr12:g.49433008C>T (hg19) ; chr12:g.49039225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039225C>T , CM000674.2:g.49039225C>T	GRCh38
NC_000012.11:g.49433008C>T , CM000674.1:g.49433008C>T	GRCh37
NC_000012.10:g.47719275C>T	NCBI36
NG_027827.1:g.21100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.62G>A
ENST00000683543.2:c.8363G>A	ENSP00000506726.1:p.Ser2788Asn
ENST00000685166.1:c.8372G>A	ENSP00000509386.1:p.Ser2791Asn
ENST00000689060.1:c.2382G>A
ENST00000689143.1:c.2036G>A	ENSP00000509839.1:p.Ser679Asn
ENST00000689944.1:c.2472G>A
ENST00000692637.1:c.8360G>A	ENSP00000509666.1:p.Ser2787Asn
ENST00000301067.12:c.8363G>A MANE Select	ENSP00000301067.7:p.Ser2788Asn
ENST00000301067.11:c.8363G>A	ENSP00000301067.7:p.Ser2788Asn
ENST00000549799.1:n.75G>A
NM_003482.3:c.8363G>A	NP_003473.3:p.Ser2788Asn
XM_005269162.3:c.8363G>A	XP_005269219.1:p.Ser2788Asn
XM_006719614.2:c.8372G>A	XP_006719677.1:p.Ser2791Asn
XM_006719616.2:c.8360G>A	XP_006719679.1:p.Ser2787Asn
XM_011538770.1:c.8372G>A	XP_011537072.1:p.Ser2791Asn
XM_011538771.1:c.8369G>A	XP_011537073.1:p.Ser2790Asn
XM_011538772.1:c.8363G>A	XP_011537074.1:p.Ser2788Asn
XM_011538773.1:c.8360G>A	XP_011537075.1:p.Ser2787Asn
XM_011538774.1:c.8351G>A	XP_011537076.1:p.Ser2784Asn
XM_011538775.1:c.8372G>A	XP_011537077.1:p.Ser2791Asn
XM_011538776.1:c.8279G>A	XP_011537078.1:p.Ser2760Asn
XR_944740.1:n.10692G>A
XM_005269162.4:c.8363G>A	XP_005269219.1:p.Ser2788Asn
XM_006719614.4:c.8372G>A	XP_006719677.1:p.Ser2791Asn
XM_006719616.3:c.8360G>A	XP_006719679.1:p.Ser2787Asn
XM_011538770.2:c.8372G>A	XP_011537072.1:p.Ser2791Asn
XM_011538771.2:c.8369G>A	XP_011537073.1:p.Ser2790Asn
XM_011538772.2:c.8363G>A	XP_011537074.1:p.Ser2788Asn
XM_011538773.2:c.8360G>A	XP_011537075.1:p.Ser2787Asn
XM_011538774.2:c.8351G>A	XP_011537076.1:p.Ser2784Asn
XM_011538776.2:c.8279G>A	XP_011537078.1:p.Ser2760Asn
XR_001748874.1:n.9681G>A
NM_003482.4:c.8363G>A MANE Select	NP_003473.3:p.Ser2788Asn