Canonical Allele Identifier: CA605233696

Gene: KMT2D

Linked Data

• dbSNP Id: rs1565790733
• gnomAD v2: 12-49433243-CCTCGACTCAGCTG-C
• gnomAD v4: 12-49039460-CCTCGACTCAGCTG-C
• MyVariant Identifiers: chr12:g.49433244_49433256del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039464_49039476del , CM000674.2:g.49039464_49039476del	GRCh38
NC_000012.11:g.49433247_49433259del , CM000674.1:g.49433247_49433259del	GRCh37
NC_000012.10:g.47719514_47719526del	NCBI36
NG_027827.1:g.20852_20864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8191_8203del	ENSP00000506726.1:p.Gln2731AlafsTer22
ENST00000685166.1:c.8200_8212del	ENSP00000509386.1:p.Gln2734AlafsTer22
ENST00000689060.1:c.2210_2222del
ENST00000689143.1:c.1864_1876del	ENSP00000509839.1:p.Gln622AlafsTer22
ENST00000689944.1:c.2300_2312del
ENST00000692637.1:c.8188_8200del	ENSP00000509666.1:p.Gln2730AlafsTer22
ENST00000301067.12:c.8191_8203del MANE Select	ENSP00000301067.7:p.Gln2731AlafsTer22
ENST00000301067.11:c.8191_8203del	ENSP00000301067.7:p.Gln2731AlafsTer22
NM_003482.3:c.8191_8203del	NP_003473.3:p.Gln2731AlafsTer22
XM_005269162.3:c.8191_8203del	XP_005269219.1:p.Gln2731AlafsTer22
XM_006719614.2:c.8200_8212del	XP_006719677.1:p.Gln2734AlafsTer22
XM_006719616.2:c.8188_8200del	XP_006719679.1:p.Gln2730AlafsTer22
XM_011538770.1:c.8200_8212del	XP_011537072.1:p.Gln2734AlafsTer22
XM_011538771.1:c.8197_8209del	XP_011537073.1:p.Gln2733AlafsTer22
XM_011538772.1:c.8191_8203del	XP_011537074.1:p.Gln2731AlafsTer22
XM_011538773.1:c.8188_8200del	XP_011537075.1:p.Gln2730AlafsTer22
XM_011538774.1:c.8179_8191del	XP_011537076.1:p.Gln2727AlafsTer22
XM_011538775.1:c.8200_8212del	XP_011537077.1:p.Gln2734AlafsTer22
XM_011538776.1:c.8107_8119del	XP_011537078.1:p.Gln2703AlafsTer22
XR_944740.1:n.10520_10532del
XM_005269162.4:c.8191_8203del	XP_005269219.1:p.Gln2731AlafsTer22
XM_006719614.4:c.8200_8212del	XP_006719677.1:p.Gln2734AlafsTer22
XM_006719616.3:c.8188_8200del	XP_006719679.1:p.Gln2730AlafsTer22
XM_011538770.2:c.8200_8212del	XP_011537072.1:p.Gln2734AlafsTer22
XM_011538771.2:c.8197_8209del	XP_011537073.1:p.Gln2733AlafsTer22
XM_011538772.2:c.8191_8203del	XP_011537074.1:p.Gln2731AlafsTer22
XM_011538773.2:c.8188_8200del	XP_011537075.1:p.Gln2730AlafsTer22
XM_011538774.2:c.8179_8191del	XP_011537076.1:p.Gln2727AlafsTer22
XM_011538776.2:c.8107_8119del	XP_011537078.1:p.Gln2703AlafsTer22
XR_001748874.1:n.9509_9521del
NM_003482.4:c.8191_8203del MANE Select	NP_003473.3:p.Gln2731AlafsTer22