Canonical Allele Identifier: CA605233848

Gene: KMT2D

Linked Data

• dbSNP Id: rs1311845601
• gnomAD v2: 12-49416172-G-A
• gnomAD v4: 12-49022389-G-A
• MyVariant Identifiers: chr12:g.49416172G>A (hg19) ; chr12:g.49022389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022389G>A , CM000674.2:g.49022389G>A	GRCh38
NC_000012.11:g.49416172G>A , CM000674.1:g.49416172G>A	GRCh37
NC_000012.10:g.47702439G>A	NCBI36
NG_027827.1:g.37936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.309-36C>T
ENST00000681974.1:n.1011-36C>T
ENST00000682693.1:n.1973-36C>T
ENST00000682886.1:n.709C>T
ENST00000683543.2:c.16387-36C>T	ENSP00000506726.1:n.16387-36C>T
ENST00000683988.1:c.310-36C>T	ENSP00000506939.1:n.310-36C>T
ENST00000684428.1:c.896C>T	ENSP00000507433.1:p.Thr299Ile
ENST00000685024.1:c.1493-36C>T
ENST00000685166.1:c.16348-36C>T	ENSP00000509386.1:n.16348-36C>T
ENST00000691932.1:c.340-36C>T	ENSP00000509037.1:n.340-36C>T
ENST00000692637.1:c.16336-36C>T	ENSP00000509666.1:n.16336-36C>T
ENST00000301067.12:c.16339-36C>T MANE Select	ENSP00000301067.7:n.16339-36C>T
ENST00000301067.11:c.16339-36C>T	ENSP00000301067.7:n.16339-36C>T
ENST00000526209.1:c.382-36C>T	ENSP00000435714.1:n.382-36C>T
NM_003482.3:c.16339-36C>T	NP_003473.3:n.16339-36C>T
XM_005269162.3:c.16339-36C>T	XP_005269219.1:n.16339-36C>T
XM_006719614.2:c.16348-36C>T	XP_006719677.1:n.16348-36C>T
XM_006719616.2:c.16336-36C>T	XP_006719679.1:n.16336-36C>T
XM_011538770.1:c.16396-36C>T	XP_011537072.1:n.16396-36C>T
XM_011538771.1:c.16393-36C>T	XP_011537073.1:n.16393-36C>T
XM_011538772.1:c.16387-36C>T	XP_011537074.1:n.16387-36C>T
XM_011538773.1:c.16384-36C>T	XP_011537075.1:n.16384-36C>T
XM_011538774.1:c.16375-36C>T	XP_011537076.1:n.16375-36C>T
XM_011538775.1:c.16330-36C>T	XP_011537077.1:n.16330-36C>T
XM_011538776.1:c.16303-36C>T	XP_011537078.1:n.16303-36C>T
XM_005269162.4:c.16339-36C>T	XP_005269219.1:n.16339-36C>T
XM_006719614.4:c.16348-36C>T	XP_006719677.1:n.16348-36C>T
XM_006719616.3:c.16336-36C>T	XP_006719679.1:n.16336-36C>T
XM_011538770.2:c.16396-36C>T	XP_011537072.1:n.16396-36C>T
XM_011538771.2:c.16393-36C>T	XP_011537073.1:n.16393-36C>T
XM_011538772.2:c.16387-36C>T	XP_011537074.1:n.16387-36C>T
XM_011538773.2:c.16384-36C>T	XP_011537075.1:n.16384-36C>T
XM_011538774.2:c.16375-36C>T	XP_011537076.1:n.16375-36C>T
XM_011538776.2:c.16303-36C>T	XP_011537078.1:n.16303-36C>T
XR_001748874.1:n.16516-36C>T
NM_003482.4:c.16339-36C>T MANE Select	NP_003473.3:n.16339-36C>T