Canonical Allele Identifier: CA384676455

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415924G>T (hg19) ; chr12:g.49022141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022141G>T , CM000674.2:g.49022141G>T	GRCh38
NC_000012.11:g.49415924G>T , CM000674.1:g.49415924G>T	GRCh37
NC_000012.10:g.47702191G>T	NCBI36
NG_027827.1:g.38184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.393C>A
ENST00000681974.1:n.1095C>A
ENST00000682693.1:n.2057C>A
ENST00000682886.1:n.829C>A
ENST00000683543.2:c.16471C>A	ENSP00000506726.1:p.His5491Asn
ENST00000683988.1:c.394C>A	ENSP00000506939.1:p.His132Asn
ENST00000684428.1:c.1016C>A	ENSP00000507433.1:n.1016C>A
ENST00000685024.1:c.1577C>A
ENST00000685166.1:c.16432C>A	ENSP00000509386.1:p.His5478Asn
ENST00000691932.1:c.424C>A	ENSP00000509037.1:p.His142Asn
ENST00000692637.1:c.16420C>A	ENSP00000509666.1:p.His5474Asn
ENST00000301067.12:c.16423C>A MANE Select	ENSP00000301067.7:p.His5475Asn
ENST00000301067.11:c.16423C>A	ENSP00000301067.7:p.His5475Asn
ENST00000526209.1:c.466C>A	ENSP00000435714.1:p.His156Asn
NM_003482.3:c.16423C>A	NP_003473.3:p.His5475Asn
XM_005269162.3:c.16423C>A	XP_005269219.1:p.His5475Asn
XM_006719614.2:c.16432C>A	XP_006719677.1:p.His5478Asn
XM_006719616.2:c.16420C>A	XP_006719679.1:p.His5474Asn
XM_011538770.1:c.16480C>A	XP_011537072.1:p.His5494Asn
XM_011538771.1:c.16477C>A	XP_011537073.1:p.His5493Asn
XM_011538772.1:c.16471C>A	XP_011537074.1:p.His5491Asn
XM_011538773.1:c.16468C>A	XP_011537075.1:p.His5490Asn
XM_011538774.1:c.16459C>A	XP_011537076.1:p.His5487Asn
XM_011538775.1:c.16414C>A	XP_011537077.1:p.His5472Asn
XM_011538776.1:c.16387C>A	XP_011537078.1:p.His5463Asn
XM_005269162.4:c.16423C>A	XP_005269219.1:p.His5475Asn
XM_006719614.4:c.16432C>A	XP_006719677.1:p.His5478Asn
XM_006719616.3:c.16420C>A	XP_006719679.1:p.His5474Asn
XM_011538770.2:c.16480C>A	XP_011537072.1:p.His5494Asn
XM_011538771.2:c.16477C>A	XP_011537073.1:p.His5493Asn
XM_011538772.2:c.16471C>A	XP_011537074.1:p.His5491Asn
XM_011538773.2:c.16468C>A	XP_011537075.1:p.His5490Asn
XM_011538774.2:c.16459C>A	XP_011537076.1:p.His5487Asn
XM_011538776.2:c.16387C>A	XP_011537078.1:p.His5463Asn
XR_001748874.1:n.16600C>A
NM_003482.4:c.16423C>A MANE Select	NP_003473.3:p.His5475Asn