Canonical Allele Identifier: CA384743501

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433262A>G (hg19) ; chr12:g.49039479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039479A>G , CM000674.2:g.49039479A>G	GRCh38
NC_000012.11:g.49433262A>G , CM000674.1:g.49433262A>G	GRCh37
NC_000012.10:g.47719529A>G	NCBI36
NG_027827.1:g.20846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8185T>C	ENSP00000506726.1:p.Phe2729Leu
ENST00000685166.1:c.8194T>C	ENSP00000509386.1:p.Phe2732Leu
ENST00000689060.1:c.2204T>C
ENST00000689143.1:c.1858T>C	ENSP00000509839.1:p.Phe620Leu
ENST00000689944.1:c.2294T>C
ENST00000692637.1:c.8182T>C	ENSP00000509666.1:p.Phe2728Leu
ENST00000301067.12:c.8185T>C MANE Select	ENSP00000301067.7:p.Phe2729Leu
ENST00000301067.11:c.8185T>C	ENSP00000301067.7:p.Phe2729Leu
NM_003482.3:c.8185T>C	NP_003473.3:p.Phe2729Leu
XM_005269162.3:c.8185T>C	XP_005269219.1:p.Phe2729Leu
XM_006719614.2:c.8194T>C	XP_006719677.1:p.Phe2732Leu
XM_006719616.2:c.8182T>C	XP_006719679.1:p.Phe2728Leu
XM_011538770.1:c.8194T>C	XP_011537072.1:p.Phe2732Leu
XM_011538771.1:c.8191T>C	XP_011537073.1:p.Phe2731Leu
XM_011538772.1:c.8185T>C	XP_011537074.1:p.Phe2729Leu
XM_011538773.1:c.8182T>C	XP_011537075.1:p.Phe2728Leu
XM_011538774.1:c.8173T>C	XP_011537076.1:p.Phe2725Leu
XM_011538775.1:c.8194T>C	XP_011537077.1:p.Phe2732Leu
XM_011538776.1:c.8101T>C	XP_011537078.1:p.Phe2701Leu
XR_944740.1:n.10514T>C
XM_005269162.4:c.8185T>C	XP_005269219.1:p.Phe2729Leu
XM_006719614.4:c.8194T>C	XP_006719677.1:p.Phe2732Leu
XM_006719616.3:c.8182T>C	XP_006719679.1:p.Phe2728Leu
XM_011538770.2:c.8194T>C	XP_011537072.1:p.Phe2732Leu
XM_011538771.2:c.8191T>C	XP_011537073.1:p.Phe2731Leu
XM_011538772.2:c.8185T>C	XP_011537074.1:p.Phe2729Leu
XM_011538773.2:c.8182T>C	XP_011537075.1:p.Phe2728Leu
XM_011538774.2:c.8173T>C	XP_011537076.1:p.Phe2725Leu
XM_011538776.2:c.8101T>C	XP_011537078.1:p.Phe2701Leu
XR_001748874.1:n.9503T>C
NM_003482.4:c.8185T>C MANE Select	NP_003473.3:p.Phe2729Leu