Canonical Allele Identifier: CA236630161

Gene: KMT2D

Linked Data

• dbSNP Id: rs971639169
• gnomAD v3: 12-49022449-T-TG
• gnomAD v4: 12-49022449-T-TG
• MyVariant Identifiers: chr12:g.49416232_49416233insG (hg19) ; chr12:g.49022449_49022450insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022449_49022450insG , CM000674.2:g.49022449_49022450insG	GRCh38
NC_000012.11:g.49416232_49416233insG , CM000674.1:g.49416232_49416233insG	GRCh37
NC_000012.10:g.47702499_47702500insG	NCBI36
NG_027827.1:g.37875_37876insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.309-97_309-96insC
ENST00000681974.1:n.1011-97_1011-96insC
ENST00000682693.1:n.1973-97_1973-96insC
ENST00000682886.1:n.648_649insC
ENST00000683543.2:c.16387-97_16387-96insC	ENSP00000506726.1:n.16387-97_16387-96insC
ENST00000683988.1:c.310-97_310-96insC	ENSP00000506939.1:n.310-97_310-96insC
ENST00000684428.1:c.874-39_874-38insC	ENSP00000507433.1:n.874-39_874-38insC
ENST00000685024.1:c.1493-97_1493-96insC
ENST00000685166.1:c.16348-97_16348-96insC	ENSP00000509386.1:n.16348-97_16348-96insC
ENST00000691932.1:c.340-97_340-96insC	ENSP00000509037.1:n.340-97_340-96insC
ENST00000692637.1:c.16336-97_16336-96insC	ENSP00000509666.1:n.16336-97_16336-96insC
ENST00000301067.12:c.16339-97_16339-96insC MANE Select	ENSP00000301067.7:n.16339-97_16339-96insC
ENST00000301067.11:c.16339-97_16339-96insC	ENSP00000301067.7:n.16339-97_16339-96insC
ENST00000526209.1:c.382-97_382-96insC	ENSP00000435714.1:n.382-97_382-96insC
NM_003482.3:c.16339-97_16339-96insC	NP_003473.3:n.16339-97_16339-96insC
XM_005269162.3:c.16339-97_16339-96insC	XP_005269219.1:n.16339-97_16339-96insC
XM_006719614.2:c.16348-97_16348-96insC	XP_006719677.1:n.16348-97_16348-96insC
XM_006719616.2:c.16336-97_16336-96insC	XP_006719679.1:n.16336-97_16336-96insC
XM_011538770.1:c.16396-97_16396-96insC	XP_011537072.1:n.16396-97_16396-96insC
XM_011538771.1:c.16393-97_16393-96insC	XP_011537073.1:n.16393-97_16393-96insC
XM_011538772.1:c.16387-97_16387-96insC	XP_011537074.1:n.16387-97_16387-96insC
XM_011538773.1:c.16384-97_16384-96insC	XP_011537075.1:n.16384-97_16384-96insC
XM_011538774.1:c.16375-97_16375-96insC	XP_011537076.1:n.16375-97_16375-96insC
XM_011538775.1:c.16330-97_16330-96insC	XP_011537077.1:n.16330-97_16330-96insC
XM_011538776.1:c.16303-97_16303-96insC	XP_011537078.1:n.16303-97_16303-96insC
XM_005269162.4:c.16339-97_16339-96insC	XP_005269219.1:n.16339-97_16339-96insC
XM_006719614.4:c.16348-97_16348-96insC	XP_006719677.1:n.16348-97_16348-96insC
XM_006719616.3:c.16336-97_16336-96insC	XP_006719679.1:n.16336-97_16336-96insC
XM_011538770.2:c.16396-97_16396-96insC	XP_011537072.1:n.16396-97_16396-96insC
XM_011538771.2:c.16393-97_16393-96insC	XP_011537073.1:n.16393-97_16393-96insC
XM_011538772.2:c.16387-97_16387-96insC	XP_011537074.1:n.16387-97_16387-96insC
XM_011538773.2:c.16384-97_16384-96insC	XP_011537075.1:n.16384-97_16384-96insC
XM_011538774.2:c.16375-97_16375-96insC	XP_011537076.1:n.16375-97_16375-96insC
XM_011538776.2:c.16303-97_16303-96insC	XP_011537078.1:n.16303-97_16303-96insC
XR_001748874.1:n.16516-97_16516-96insC
NM_003482.4:c.16339-97_16339-96insC MANE Select	NP_003473.3:n.16339-97_16339-96insC