Canonical Allele Identifier: CA384676389

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942359324
• MyVariant Identifiers: chr12:g.49415917C>G (hg19) ; chr12:g.49022134C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022134C>G , CM000674.2:g.49022134C>G	GRCh38
NC_000012.11:g.49415917C>G , CM000674.1:g.49415917C>G	GRCh37
NC_000012.10:g.47702184C>G	NCBI36
NG_027827.1:g.38191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.400G>C
ENST00000681974.1:n.1102G>C
ENST00000682693.1:n.2064G>C
ENST00000682886.1:n.836G>C
ENST00000683543.2:c.16478G>C	ENSP00000506726.1:p.Cys5493Ser
ENST00000683988.1:c.401G>C	ENSP00000506939.1:p.Cys134Ser
ENST00000684428.1:c.1023G>C	ENSP00000507433.1:n.1023G>C
ENST00000685024.1:c.1584G>C
ENST00000685166.1:c.16439G>C	ENSP00000509386.1:p.Cys5480Ser
ENST00000691932.1:c.431G>C	ENSP00000509037.1:p.Cys144Ser
ENST00000692637.1:c.16427G>C	ENSP00000509666.1:p.Cys5476Ser
ENST00000301067.12:c.16430G>C MANE Select	ENSP00000301067.7:p.Cys5477Ser
ENST00000301067.11:c.16430G>C	ENSP00000301067.7:p.Cys5477Ser
ENST00000526209.1:c.473G>C	ENSP00000435714.1:p.Cys158Ser
NM_003482.3:c.16430G>C	NP_003473.3:p.Cys5477Ser
XM_005269162.3:c.16430G>C	XP_005269219.1:p.Cys5477Ser
XM_006719614.2:c.16439G>C	XP_006719677.1:p.Cys5480Ser
XM_006719616.2:c.16427G>C	XP_006719679.1:p.Cys5476Ser
XM_011538770.1:c.16487G>C	XP_011537072.1:p.Cys5496Ser
XM_011538771.1:c.16484G>C	XP_011537073.1:p.Cys5495Ser
XM_011538772.1:c.16478G>C	XP_011537074.1:p.Cys5493Ser
XM_011538773.1:c.16475G>C	XP_011537075.1:p.Cys5492Ser
XM_011538774.1:c.16466G>C	XP_011537076.1:p.Cys5489Ser
XM_011538775.1:c.16421G>C	XP_011537077.1:p.Cys5474Ser
XM_011538776.1:c.16394G>C	XP_011537078.1:p.Cys5465Ser
XM_005269162.4:c.16430G>C	XP_005269219.1:p.Cys5477Ser
XM_006719614.4:c.16439G>C	XP_006719677.1:p.Cys5480Ser
XM_006719616.3:c.16427G>C	XP_006719679.1:p.Cys5476Ser
XM_011538770.2:c.16487G>C	XP_011537072.1:p.Cys5496Ser
XM_011538771.2:c.16484G>C	XP_011537073.1:p.Cys5495Ser
XM_011538772.2:c.16478G>C	XP_011537074.1:p.Cys5493Ser
XM_011538773.2:c.16475G>C	XP_011537075.1:p.Cys5492Ser
XM_011538774.2:c.16466G>C	XP_011537076.1:p.Cys5489Ser
XM_011538776.2:c.16394G>C	XP_011537078.1:p.Cys5465Ser
XR_001748874.1:n.16607G>C
NM_003482.4:c.16430G>C MANE Select	NP_003473.3:p.Cys5477Ser