Canonical Allele Identifier: CA384682355

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711332
• gnomAD v4: 12-49024812-A-T
• MyVariant Identifiers: chr12:g.49418595A>T (hg19) ; chr12:g.49024812A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024812A>T , CM000674.2:g.49024812A>T	GRCh38
NC_000012.11:g.49418595A>T , CM000674.1:g.49418595A>T	GRCh37
NC_000012.10:g.47704862A>T	NCBI36
NG_027827.1:g.35513T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.591T>A
ENST00000683543.2:c.15919T>A	ENSP00000506726.1:p.Ser5307Thr
ENST00000683863.1:n.1634T>A
ENST00000684428.1:c.454T>A	ENSP00000507433.1:p.Ser152Thr
ENST00000684755.1:n.454T>A
ENST00000685024.1:c.1044T>A
ENST00000685166.1:c.15928T>A	ENSP00000509386.1:p.Ser5310Thr
ENST00000688411.1:c.396T>A	ENSP00000510146.1:n.396T>A
ENST00000691463.1:c.1305T>A	ENSP00000510624.1:n.1305T>A
ENST00000692637.1:c.15916T>A	ENSP00000509666.1:p.Ser5306Thr
ENST00000301067.12:c.15919T>A MANE Select	ENSP00000301067.7:p.Ser5307Thr
ENST00000301067.11:c.15919T>A	ENSP00000301067.7:p.Ser5307Thr
NM_003482.3:c.15919T>A	NP_003473.3:p.Ser5307Thr
XM_005269162.3:c.15919T>A	XP_005269219.1:p.Ser5307Thr
XM_006719614.2:c.15928T>A	XP_006719677.1:p.Ser5310Thr
XM_006719616.2:c.15916T>A	XP_006719679.1:p.Ser5306Thr
XM_011538770.1:c.15928T>A	XP_011537072.1:p.Ser5310Thr
XM_011538771.1:c.15925T>A	XP_011537073.1:p.Ser5309Thr
XM_011538772.1:c.15919T>A	XP_011537074.1:p.Ser5307Thr
XM_011538773.1:c.15916T>A	XP_011537075.1:p.Ser5306Thr
XM_011538774.1:c.15907T>A	XP_011537076.1:p.Ser5303Thr
XM_011538775.1:c.15862T>A	XP_011537077.1:p.Ser5288Thr
XM_011538776.1:c.15835T>A	XP_011537078.1:p.Ser5279Thr
XR_944740.1:n.17107T>A
XM_005269162.4:c.15919T>A	XP_005269219.1:p.Ser5307Thr
XM_006719614.4:c.15928T>A	XP_006719677.1:p.Ser5310Thr
XM_006719616.3:c.15916T>A	XP_006719679.1:p.Ser5306Thr
XM_011538770.2:c.15928T>A	XP_011537072.1:p.Ser5310Thr
XM_011538771.2:c.15925T>A	XP_011537073.1:p.Ser5309Thr
XM_011538772.2:c.15919T>A	XP_011537074.1:p.Ser5307Thr
XM_011538773.2:c.15916T>A	XP_011537075.1:p.Ser5306Thr
XM_011538774.2:c.15907T>A	XP_011537076.1:p.Ser5303Thr
XM_011538776.2:c.15835T>A	XP_011537078.1:p.Ser5279Thr
XR_001748874.1:n.16096T>A
NM_003482.4:c.15919T>A MANE Select	NP_003473.3:p.Ser5307Thr