Canonical Allele Identifier: CA384743492

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433261A>G (hg19) ; chr12:g.49039478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039478A>G , CM000674.2:g.49039478A>G	GRCh38
NC_000012.11:g.49433261A>G , CM000674.1:g.49433261A>G	GRCh37
NC_000012.10:g.47719528A>G	NCBI36
NG_027827.1:g.20847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8186T>C	ENSP00000506726.1:p.Phe2729Ser
ENST00000685166.1:c.8195T>C	ENSP00000509386.1:p.Phe2732Ser
ENST00000689060.1:c.2205T>C
ENST00000689143.1:c.1859T>C	ENSP00000509839.1:p.Phe620Ser
ENST00000689944.1:c.2295T>C
ENST00000692637.1:c.8183T>C	ENSP00000509666.1:p.Phe2728Ser
ENST00000301067.12:c.8186T>C MANE Select	ENSP00000301067.7:p.Phe2729Ser
ENST00000301067.11:c.8186T>C	ENSP00000301067.7:p.Phe2729Ser
NM_003482.3:c.8186T>C	NP_003473.3:p.Phe2729Ser
XM_005269162.3:c.8186T>C	XP_005269219.1:p.Phe2729Ser
XM_006719614.2:c.8195T>C	XP_006719677.1:p.Phe2732Ser
XM_006719616.2:c.8183T>C	XP_006719679.1:p.Phe2728Ser
XM_011538770.1:c.8195T>C	XP_011537072.1:p.Phe2732Ser
XM_011538771.1:c.8192T>C	XP_011537073.1:p.Phe2731Ser
XM_011538772.1:c.8186T>C	XP_011537074.1:p.Phe2729Ser
XM_011538773.1:c.8183T>C	XP_011537075.1:p.Phe2728Ser
XM_011538774.1:c.8174T>C	XP_011537076.1:p.Phe2725Ser
XM_011538775.1:c.8195T>C	XP_011537077.1:p.Phe2732Ser
XM_011538776.1:c.8102T>C	XP_011537078.1:p.Phe2701Ser
XR_944740.1:n.10515T>C
XM_005269162.4:c.8186T>C	XP_005269219.1:p.Phe2729Ser
XM_006719614.4:c.8195T>C	XP_006719677.1:p.Phe2732Ser
XM_006719616.3:c.8183T>C	XP_006719679.1:p.Phe2728Ser
XM_011538770.2:c.8195T>C	XP_011537072.1:p.Phe2732Ser
XM_011538771.2:c.8192T>C	XP_011537073.1:p.Phe2731Ser
XM_011538772.2:c.8186T>C	XP_011537074.1:p.Phe2729Ser
XM_011538773.2:c.8183T>C	XP_011537075.1:p.Phe2728Ser
XM_011538774.2:c.8174T>C	XP_011537076.1:p.Phe2725Ser
XM_011538776.2:c.8102T>C	XP_011537078.1:p.Phe2701Ser
XR_001748874.1:n.9504T>C
NM_003482.4:c.8186T>C MANE Select	NP_003473.3:p.Phe2729Ser