Canonical Allele Identifier: CA370093003
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148775C>G , CM000669.2:g.152148775C>G GRCh38
NC_000007.13:g.151845860C>G , CM000669.1:g.151845860C>G GRCh37
NC_000007.12:g.151476793C>G NCBI36
NG_033948.1:g.292231G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1340G>C
ENST00000682116.1:n.2284G>C
ENST00000682283.1:c.13323G>C ENSP00000507485.1:p.Lys4441Asn
ENST00000682629.1:n.2452G>C
ENST00000683120.1:n.8344G>C
ENST00000683178.1:c.3725G>C
ENST00000683200.1:c.10662G>C ENSP00000508052.1:p.Lys3554Asn
ENST00000683337.1:n.4782G>C
ENST00000683502.1:c.3797G>C
ENST00000683621.1:n.1918G>C
ENST00000683640.1:n.1868G>C
ENST00000684069.1:c.1569G>C ENSP00000507650.1:p.Lys523Asn
ENST00000684261.1:c.8049G>C ENSP00000508097.1:p.Lys2683Asn
ENST00000684649.1:c.3797G>C
ENST00000262189.11:c.13152G>C MANE Select ENSP00000262189.6:p.Lys4384Asn
ENST00000360104.8:c.8939G>C
ENST00000418061.2:c.3794G>C
ENST00000424877.6:c.3728G>C
ENST00000679393.1:n.7863G>C
ENST00000679560.1:c.8052G>C ENSP00000505094.1:p.Lys2684Asn
ENST00000679882.1:c.12717G>C ENSP00000506154.1:p.Lys4239Asn
ENST00000680029.1:c.3729G>C
ENST00000680877.1:c.8052G>C ENSP00000505724.1:p.Lys2684Asn
ENST00000681923.1:n.2167G>C
ENST00000262189.10:c.13152G>C ENSP00000262189.6:p.Lys4384Asn
ENST00000355193.6:c.13152G>C ENSP00000347325.3:p.Lys4384Asn
ENST00000360104.7:c.5833G>C
ENST00000424877.5:c.3003G>C ENSP00000410411.1:p.Lys1001Asn
ENST00000473186.5:n.11034G>C
ENST00000558084.5:c.*10672G>C ENSP00000453752.1:n.*10672G>C
NM_170606.2:c.13152G>C NP_733751.2:p.Lys4384Asn
XM_005250025.3:c.13368G>C XP_005250082.1:p.Lys4456Asn
XM_005250026.2:c.13365G>C XP_005250083.1:p.Lys4455Asn
XM_005250027.3:c.13365G>C XP_005250084.1:p.Lys4455Asn
XM_005250028.3:c.13368G>C XP_005250085.1:p.Lys4456Asn
XM_005250031.3:c.13203G>C XP_005250088.1:p.Lys4401Asn
XM_006716077.2:c.13365G>C XP_006716140.1:p.Lys4455Asn
XM_006716078.2:c.13296G>C XP_006716141.1:p.Lys4432Asn
XM_006716079.2:c.13200G>C XP_006716142.1:p.Lys4400Asn
XM_011516450.1:c.13320G>C XP_011514752.1:p.Lys4440Asn
XM_011516451.1:c.13248G>C XP_011514753.1:p.Lys4416Asn
XM_011516452.1:c.13215G>C XP_011514754.1:p.Lys4405Asn
XM_011516453.1:c.13131G>C XP_011514755.1:p.Lys4377Asn
XM_011516454.1:c.12453G>C XP_011514756.1:p.Lys4151Asn
XM_011516455.1:c.10914G>C XP_011514757.1:p.Lys3638Asn
XM_011516456.1:c.13320G>C XP_011514758.1:p.Lys4440Asn
XM_005250025.4:c.13368G>C XP_005250082.1:p.Lys4456Asn
XM_005250026.3:c.13365G>C XP_005250083.1:p.Lys4455Asn
XM_005250027.4:c.13365G>C XP_005250084.1:p.Lys4455Asn
XM_005250028.4:c.13368G>C XP_005250085.1:p.Lys4456Asn
XM_005250031.4:c.13203G>C XP_005250088.1:p.Lys4401Asn
XM_006716077.3:c.13365G>C XP_006716140.1:p.Lys4455Asn
XM_006716078.3:c.13296G>C XP_006716141.1:p.Lys4432Asn
XM_006716079.3:c.13200G>C XP_006716142.1:p.Lys4400Asn
XM_011516450.2:c.13320G>C XP_011514752.1:p.Lys4440Asn
XM_011516451.2:c.13248G>C XP_011514753.1:p.Lys4416Asn
XM_011516452.2:c.13215G>C XP_011514754.1:p.Lys4405Asn
XM_011516453.2:c.13131G>C XP_011514755.1:p.Lys4377Asn
XM_011516454.2:c.12453G>C XP_011514756.1:p.Lys4151Asn
XM_011516456.2:c.13320G>C XP_011514758.1:p.Lys4440Asn
XM_017012480.1:c.13368G>C XP_016867969.1:p.Lys4456Asn
XM_017012481.1:c.13365G>C XP_016867970.1:p.Lys4455Asn
XM_017012482.1:c.13365G>C XP_016867971.1:p.Lys4455Asn
XM_017012483.1:c.13365G>C XP_016867972.1:p.Lys4455Asn
XM_017012484.1:c.13335G>C XP_016867973.1:p.Lys4445Asn
XM_017012485.1:c.13317G>C XP_016867974.1:p.Lys4439Asn
XM_017012486.1:c.13293G>C XP_016867975.1:p.Lys4431Asn
XM_017012487.1:c.13221G>C XP_016867976.1:p.Lys4407Asn
XM_017012488.1:c.13185G>C XP_016867977.1:p.Lys4395Asn
XM_017012489.1:c.10038G>C XP_016867978.1:p.Lys3346Asn
XM_017012490.2:c.9642G>C XP_016867979.1:p.Lys3214Asn
XM_024446852.1:c.13365G>C XP_024302620.1:p.Lys4455Asn
XM_024446853.1:c.13293G>C XP_024302621.1:p.Lys4431Asn
NM_170606.3:c.13152G>C MANE Select NP_733751.2:p.Lys4384Asn