Canonical Allele Identifier: CA384675848

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415863A>C (hg19) ; chr12:g.49022080A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022080A>C , CM000674.2:g.49022080A>C	GRCh38
NC_000012.11:g.49415863A>C , CM000674.1:g.49415863A>C	GRCh37
NC_000012.10:g.47702130A>C	NCBI36
NG_027827.1:g.38245T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.454T>G
ENST00000681974.1:n.1156T>G
ENST00000682693.1:n.2118T>G
ENST00000682886.1:n.890T>G
ENST00000683543.2:c.16532T>G	ENSP00000506726.1:p.Ile5511Ser
ENST00000683988.1:c.455T>G	ENSP00000506939.1:p.Ile152Ser
ENST00000684428.1:c.1077T>G	ENSP00000507433.1:n.1077T>G
ENST00000685024.1:c.1638T>G
ENST00000685166.1:c.16493T>G	ENSP00000509386.1:p.Ile5498Ser
ENST00000691932.1:c.485T>G	ENSP00000509037.1:p.Ile162Ser
ENST00000692637.1:c.16481T>G	ENSP00000509666.1:p.Ile5494Ser
ENST00000301067.12:c.16484T>G MANE Select	ENSP00000301067.7:p.Ile5495Ser
ENST00000301067.11:c.16484T>G	ENSP00000301067.7:p.Ile5495Ser
ENST00000526209.1:c.527T>G	ENSP00000435714.1:p.Ile176Ser
NM_003482.3:c.16484T>G	NP_003473.3:p.Ile5495Ser
XM_005269162.3:c.16484T>G	XP_005269219.1:p.Ile5495Ser
XM_006719614.2:c.16493T>G	XP_006719677.1:p.Ile5498Ser
XM_006719616.2:c.16481T>G	XP_006719679.1:p.Ile5494Ser
XM_011538770.1:c.16541T>G	XP_011537072.1:p.Ile5514Ser
XM_011538771.1:c.16538T>G	XP_011537073.1:p.Ile5513Ser
XM_011538772.1:c.16532T>G	XP_011537074.1:p.Ile5511Ser
XM_011538773.1:c.16529T>G	XP_011537075.1:p.Ile5510Ser
XM_011538774.1:c.16520T>G	XP_011537076.1:p.Ile5507Ser
XM_011538775.1:c.16475T>G	XP_011537077.1:p.Ile5492Ser
XM_011538776.1:c.16448T>G	XP_011537078.1:p.Ile5483Ser
XM_005269162.4:c.16484T>G	XP_005269219.1:p.Ile5495Ser
XM_006719614.4:c.16493T>G	XP_006719677.1:p.Ile5498Ser
XM_006719616.3:c.16481T>G	XP_006719679.1:p.Ile5494Ser
XM_011538770.2:c.16541T>G	XP_011537072.1:p.Ile5514Ser
XM_011538771.2:c.16538T>G	XP_011537073.1:p.Ile5513Ser
XM_011538772.2:c.16532T>G	XP_011537074.1:p.Ile5511Ser
XM_011538773.2:c.16529T>G	XP_011537075.1:p.Ile5510Ser
XM_011538774.2:c.16520T>G	XP_011537076.1:p.Ile5507Ser
XM_011538776.2:c.16448T>G	XP_011537078.1:p.Ile5483Ser
XR_001748874.1:n.16661T>G
NM_003482.4:c.16484T>G MANE Select	NP_003473.3:p.Ile5495Ser