Canonical Allele Identifier: CA384742712

Gene: KMT2D

Linked Data

• dbSNP Id: rs1230189686
• MyVariant Identifiers: chr12:g.49433045G>A (hg19) ; chr12:g.49039262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039262G>A , CM000674.2:g.49039262G>A	GRCh38
NC_000012.11:g.49433045G>A , CM000674.1:g.49433045G>A	GRCh37
NC_000012.10:g.47719312G>A	NCBI36
NG_027827.1:g.21063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.25C>T
ENST00000683543.2:c.8326C>T	ENSP00000506726.1:p.Pro2776Ser
ENST00000685166.1:c.8335C>T	ENSP00000509386.1:p.Pro2779Ser
ENST00000689060.1:c.2345C>T
ENST00000689143.1:c.1999C>T	ENSP00000509839.1:p.Pro667Ser
ENST00000689944.1:c.2435C>T
ENST00000692637.1:c.8323C>T	ENSP00000509666.1:p.Pro2775Ser
ENST00000301067.12:c.8326C>T MANE Select	ENSP00000301067.7:p.Pro2776Ser
ENST00000301067.11:c.8326C>T	ENSP00000301067.7:p.Pro2776Ser
ENST00000549799.1:n.38C>T
NM_003482.3:c.8326C>T	NP_003473.3:p.Pro2776Ser
XM_005269162.3:c.8326C>T	XP_005269219.1:p.Pro2776Ser
XM_006719614.2:c.8335C>T	XP_006719677.1:p.Pro2779Ser
XM_006719616.2:c.8323C>T	XP_006719679.1:p.Pro2775Ser
XM_011538770.1:c.8335C>T	XP_011537072.1:p.Pro2779Ser
XM_011538771.1:c.8332C>T	XP_011537073.1:p.Pro2778Ser
XM_011538772.1:c.8326C>T	XP_011537074.1:p.Pro2776Ser
XM_011538773.1:c.8323C>T	XP_011537075.1:p.Pro2775Ser
XM_011538774.1:c.8314C>T	XP_011537076.1:p.Pro2772Ser
XM_011538775.1:c.8335C>T	XP_011537077.1:p.Pro2779Ser
XM_011538776.1:c.8242C>T	XP_011537078.1:p.Pro2748Ser
XR_944740.1:n.10655C>T
XM_005269162.4:c.8326C>T	XP_005269219.1:p.Pro2776Ser
XM_006719614.4:c.8335C>T	XP_006719677.1:p.Pro2779Ser
XM_006719616.3:c.8323C>T	XP_006719679.1:p.Pro2775Ser
XM_011538770.2:c.8335C>T	XP_011537072.1:p.Pro2779Ser
XM_011538771.2:c.8332C>T	XP_011537073.1:p.Pro2778Ser
XM_011538772.2:c.8326C>T	XP_011537074.1:p.Pro2776Ser
XM_011538773.2:c.8323C>T	XP_011537075.1:p.Pro2775Ser
XM_011538774.2:c.8314C>T	XP_011537076.1:p.Pro2772Ser
XM_011538776.2:c.8242C>T	XP_011537078.1:p.Pro2748Ser
XR_001748874.1:n.9644C>T
NM_003482.4:c.8326C>T MANE Select	NP_003473.3:p.Pro2776Ser