Canonical Allele Identifier: CA6304397

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1426377
• ClinVar RCV Id: RCV001929375
• dbSNP Id: rs138913980
• ExAC: 11:118374037 T / C
• gnomAD v2: 11-118374037-T-C
• gnomAD v3: 11-118503322-T-C
• gnomAD v4: 11-118503322-T-C
• MyVariant Identifiers: chr11:g.118374037T>C (hg19) ; chr11:g.118503322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503322T>C , CM000673.2:g.118503322T>C	GRCh38
NC_000011.9:g.118374037T>C , CM000673.1:g.118374037T>C	GRCh37
NC_000011.8:g.117879247T>C	NCBI36
NG_027813.1:g.71833T>C , LRG_613:g.71833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7529T>C	ENSP00000432391.3:p.Met2510Thr
ENST00000710560.1:c.7520T>C	ENSP00000518343.1:p.Met2507Thr
ENST00000649878.2:c.1469T>C	ENSP00000497891.2:p.Met490Thr
ENST00000685397.1:c.1469T>C	ENSP00000509586.1:p.Met490Thr
ENST00000686370.1:c.1469T>C	ENSP00000509179.1:p.Met490Thr
ENST00000689424.1:c.1727T>C	ENSP00000509852.1:p.Met576Thr
ENST00000691053.1:c.7502T>C	ENSP00000509168.1:p.Met2501Thr
ENST00000389506.10:c.7421T>C	ENSP00000374157.5:p.Met2474Thr
ENST00000528278.2:n.6772T>C
ENST00000534358.8:c.7430T>C MANE Select	ENSP00000436786.2:p.Met2477Thr
ENST00000649699.1:c.7307T>C	ENSP00000496927.1:p.Met2436Thr
ENST00000389506.9:c.7421T>C	ENSP00000374157.5:p.Met2474Thr
ENST00000528278.1:n.1557T>C
ENST00000534358.5:c.7430T>C	ENSP00000436786.1:p.Met2477Thr
NM_001197104.1:c.7430T>C , LRG_613t1:c.7430T>C	NP_001184033.1:p.Met2477Thr
NM_005933.3:c.7421T>C	NP_005924.2:p.Met2474Thr
XM_006718839.2:c.4913T>C	XP_006718902.2:p.Met1638Thr
XM_011542829.1:c.7529T>C	XP_011541131.1:p.Met2510Thr
XM_011542830.1:c.7526T>C	XP_011541132.1:p.Met2509Thr
XM_011542831.1:c.7520T>C	XP_011541133.1:p.Met2507Thr
XM_011542832.1:c.5336T>C	XP_011541134.1:p.Met1779Thr
XM_011542833.1:c.5012T>C	XP_011541135.1:p.Met1671Thr
XM_006718839.3:c.4913T>C	XP_006718902.2:p.Met1638Thr
XM_011542829.2:c.7529T>C	XP_011541131.1:p.Met2510Thr
XM_011542830.2:c.7526T>C	XP_011541132.1:p.Met2509Thr
XM_011542831.2:c.7520T>C	XP_011541133.1:p.Met2507Thr
XM_011542833.2:c.5012T>C	XP_011541135.1:p.Met1671Thr
NM_001197104.2:c.7430T>C MANE Select	NP_001184033.1:p.Met2477Thr
NM_005933.4:c.7421T>C	NP_005924.2:p.Met2474Thr