Canonical Allele Identifier: CA384743578

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433273C>A (hg19) ; chr12:g.49039490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039490C>A , CM000674.2:g.49039490C>A	GRCh38
NC_000012.11:g.49433273C>A , CM000674.1:g.49433273C>A	GRCh37
NC_000012.10:g.47719540C>A	NCBI36
NG_027827.1:g.20835G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8174G>T	ENSP00000506726.1:p.Ser2725Ile
ENST00000685166.1:c.8183G>T	ENSP00000509386.1:p.Ser2728Ile
ENST00000689060.1:c.2193G>T
ENST00000689143.1:c.1847G>T	ENSP00000509839.1:p.Ser616Ile
ENST00000689944.1:c.2283G>T
ENST00000692637.1:c.8171G>T	ENSP00000509666.1:p.Ser2724Ile
ENST00000301067.12:c.8174G>T MANE Select	ENSP00000301067.7:p.Ser2725Ile
ENST00000301067.11:c.8174G>T	ENSP00000301067.7:p.Ser2725Ile
NM_003482.3:c.8174G>T	NP_003473.3:p.Ser2725Ile
XM_005269162.3:c.8174G>T	XP_005269219.1:p.Ser2725Ile
XM_006719614.2:c.8183G>T	XP_006719677.1:p.Ser2728Ile
XM_006719616.2:c.8171G>T	XP_006719679.1:p.Ser2724Ile
XM_011538770.1:c.8183G>T	XP_011537072.1:p.Ser2728Ile
XM_011538771.1:c.8180G>T	XP_011537073.1:p.Ser2727Ile
XM_011538772.1:c.8174G>T	XP_011537074.1:p.Ser2725Ile
XM_011538773.1:c.8171G>T	XP_011537075.1:p.Ser2724Ile
XM_011538774.1:c.8162G>T	XP_011537076.1:p.Ser2721Ile
XM_011538775.1:c.8183G>T	XP_011537077.1:p.Ser2728Ile
XM_011538776.1:c.8090G>T	XP_011537078.1:p.Ser2697Ile
XR_944740.1:n.10503G>T
XM_005269162.4:c.8174G>T	XP_005269219.1:p.Ser2725Ile
XM_006719614.4:c.8183G>T	XP_006719677.1:p.Ser2728Ile
XM_006719616.3:c.8171G>T	XP_006719679.1:p.Ser2724Ile
XM_011538770.2:c.8183G>T	XP_011537072.1:p.Ser2728Ile
XM_011538771.2:c.8180G>T	XP_011537073.1:p.Ser2727Ile
XM_011538772.2:c.8174G>T	XP_011537074.1:p.Ser2725Ile
XM_011538773.2:c.8171G>T	XP_011537075.1:p.Ser2724Ile
XM_011538774.2:c.8162G>T	XP_011537076.1:p.Ser2721Ile
XM_011538776.2:c.8090G>T	XP_011537078.1:p.Ser2697Ile
XR_001748874.1:n.9492G>T
NM_003482.4:c.8174G>T MANE Select	NP_003473.3:p.Ser2725Ile