Canonical Allele Identifier: CA479707522
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs2120411462
MyVariant Identifiers: chr12:g.49424712G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030929G>C , CM000674.2:g.49030929G>C GRCh38
NC_000012.11:g.49424712G>C , CM000674.1:g.49424712G>C GRCh37
NC_000012.10:g.47710979G>C NCBI36
NG_027827.1:g.29396C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000552391.2:n.335C>G
ENST00000683543.2:c.13635C>G ENSP00000506726.1:p.Val4545=
ENST00000685166.1:c.13644C>G ENSP00000509386.1:p.Val4548=
ENST00000685982.1:c.139-161C>G ENSP00000508613.1:n.139-161C>G
ENST00000691986.1:c.138+246C>G ENSP00000509196.1:n.138+246C>G
ENST00000692637.1:c.13632C>G ENSP00000509666.1:p.Val4544=
ENST00000692973.1:c.236C>G ENSP00000508893.1:n.236C>G
ENST00000301067.12:c.13635C>G MANE Select ENSP00000301067.7:p.Val4545=
ENST00000301067.11:c.13635C>G ENSP00000301067.7:p.Val4545=
ENST00000552391.1:n.335C>G
NM_003482.3:c.13635C>G NP_003473.3:p.Val4545=
XM_005269162.3:c.13635C>G XP_005269219.1:p.Val4545=
XM_006719614.2:c.13644C>G XP_006719677.1:p.Val4548=
XM_006719616.2:c.13632C>G XP_006719679.1:p.Val4544=
XM_011538770.1:c.13644C>G XP_011537072.1:p.Val4548=
XM_011538771.1:c.13641C>G XP_011537073.1:p.Val4547=
XM_011538772.1:c.13635C>G XP_011537074.1:p.Val4545=
XM_011538773.1:c.13632C>G XP_011537075.1:p.Val4544=
XM_011538774.1:c.13623C>G XP_011537076.1:p.Val4541=
XM_011538775.1:c.13644C>G XP_011537077.1:p.Val4548=
XM_011538776.1:c.13551C>G XP_011537078.1:p.Val4517=
XR_944740.1:n.15964C>G
XM_005269162.4:c.13635C>G XP_005269219.1:p.Val4545=
XM_006719614.4:c.13644C>G XP_006719677.1:p.Val4548=
XM_006719616.3:c.13632C>G XP_006719679.1:p.Val4544=
XM_011538770.2:c.13644C>G XP_011537072.1:p.Val4548=
XM_011538771.2:c.13641C>G XP_011537073.1:p.Val4547=
XM_011538772.2:c.13635C>G XP_011537074.1:p.Val4545=
XM_011538773.2:c.13632C>G XP_011537075.1:p.Val4544=
XM_011538774.2:c.13623C>G XP_011537076.1:p.Val4541=
XM_011538776.2:c.13551C>G XP_011537078.1:p.Val4517=
XR_001748874.1:n.14953C>G
NM_003482.4:c.13635C>G MANE Select NP_003473.3:p.Val4545=