Canonical Allele Identifier: CA370097862
Community Standard Title: NM_170606.3(KMT2C):c.11812+2T>C
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152156203A>G , CM000669.2:g.152156203A>G GRCh38
NC_000007.13:g.151853288A>G , CM000669.1:g.151853288A>G GRCh37
NC_000007.12:g.151484221A>G NCBI36
NG_033948.1:g.284803T>C

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.11812+2T>C MANE Select NP_733751.2:n.11812+2T>C
ENST00000262189.11:c.11812+2T>C MANE Select ENSP00000262189.6:n.11812+2T>C
NM_170606.2:c.11812+2T>C NP_733751.2:n.11812+2T>C
ENST00000262189.10:c.11812+2T>C ENSP00000262189.6:n.11812+2T>C
ENST00000355193.6:c.11812+2T>C ENSP00000347325.3:n.11812+2T>C
ENST00000360104.7:c.4493+2T>C
ENST00000360104.8:c.7599+2T>C
ENST00000418061.1:c.190+2T>C ENSP00000408001.1:n.190+2T>C
ENST00000418061.2:c.2454+2T>C
ENST00000424877.5:c.1663+2T>C ENSP00000410411.1:n.1663+2T>C
ENST00000424877.6:c.2388+2T>C
ENST00000473186.5:n.9694+2T>C
ENST00000558084.5:c.*9332+2T>C ENSP00000453752.1:n.*9332+2T>C
ENST00000679393.1:n.5468+2T>C
ENST00000679560.1:c.6712+2T>C ENSP00000505094.1:n.6712+2T>C
ENST00000679882.1:c.11377+2T>C ENSP00000506154.1:n.11377+2T>C
ENST00000680029.1:c.2389+2T>C
ENST00000680877.1:c.6712+2T>C ENSP00000505724.1:n.6712+2T>C
ENST00000681923.1:n.827+2T>C
ENST00000682283.1:c.11983+2T>C ENSP00000507485.1:n.11983+2T>C
ENST00000683120.1:n.7004+2T>C
ENST00000683178.1:c.2385+2T>C
ENST00000683200.1:c.9322+2T>C ENSP00000508052.1:n.9322+2T>C
ENST00000683337.1:n.923+2T>C
ENST00000683502.1:c.2457+2T>C
ENST00000683886.1:n.1570+2T>C
ENST00000684069.1:c.229+2T>C ENSP00000507650.1:n.229+2T>C
ENST00000684261.1:c.6709+2T>C ENSP00000508097.1:n.6709+2T>C
ENST00000684330.1:n.251+2T>C
ENST00000684649.1:c.2457+2T>C
XM_005250025.3:c.12028+2T>C XP_005250082.1:n.12028+2T>C
XM_005250025.4:c.12028+2T>C XP_005250082.1:n.12028+2T>C
XM_005250026.2:c.12025+2T>C XP_005250083.1:n.12025+2T>C
XM_005250026.3:c.12025+2T>C XP_005250083.1:n.12025+2T>C
XM_005250027.3:c.12025+2T>C XP_005250084.1:n.12025+2T>C
XM_005250027.4:c.12025+2T>C XP_005250084.1:n.12025+2T>C
XM_005250028.3:c.12028+2T>C XP_005250085.1:n.12028+2T>C
XM_005250028.4:c.12028+2T>C XP_005250085.1:n.12028+2T>C
XM_005250031.3:c.11863+2T>C XP_005250088.1:n.11863+2T>C
XM_005250031.4:c.11863+2T>C XP_005250088.1:n.11863+2T>C
XM_006716077.2:c.12025+2T>C XP_006716140.1:n.12025+2T>C
XM_006716077.3:c.12025+2T>C XP_006716140.1:n.12025+2T>C
XM_006716078.2:c.11956+2T>C XP_006716141.1:n.11956+2T>C
XM_006716078.3:c.11956+2T>C XP_006716141.1:n.11956+2T>C
XM_006716079.2:c.11860+2T>C XP_006716142.1:n.11860+2T>C
XM_006716079.3:c.11860+2T>C XP_006716142.1:n.11860+2T>C
XM_011516450.1:c.11980+2T>C XP_011514752.1:n.11980+2T>C
XM_011516450.2:c.11980+2T>C XP_011514752.1:n.11980+2T>C
XM_011516451.1:c.11908+2T>C XP_011514753.1:n.11908+2T>C
XM_011516451.2:c.11908+2T>C XP_011514753.1:n.11908+2T>C
XM_011516452.1:c.11875+2T>C XP_011514754.1:n.11875+2T>C
XM_011516452.2:c.11875+2T>C XP_011514754.1:n.11875+2T>C
XM_011516453.1:c.11791+2T>C XP_011514755.1:n.11791+2T>C
XM_011516453.2:c.11791+2T>C XP_011514755.1:n.11791+2T>C
XM_011516454.1:c.11113+2T>C XP_011514756.1:n.11113+2T>C
XM_011516454.2:c.11113+2T>C XP_011514756.1:n.11113+2T>C
XM_011516455.1:c.9574+2T>C XP_011514757.1:n.9574+2T>C
XM_011516456.1:c.11980+2T>C XP_011514758.1:n.11980+2T>C
XM_011516456.2:c.11980+2T>C XP_011514758.1:n.11980+2T>C
XM_017012480.1:c.12028+2T>C XP_016867969.1:n.12028+2T>C
XM_017012481.1:c.12025+2T>C XP_016867970.1:n.12025+2T>C
XM_017012482.1:c.12025+2T>C XP_016867971.1:n.12025+2T>C
XM_017012483.1:c.12025+2T>C XP_016867972.1:n.12025+2T>C
XM_017012484.1:c.11995+2T>C XP_016867973.1:n.11995+2T>C
XM_017012485.1:c.11977+2T>C XP_016867974.1:n.11977+2T>C
XM_017012486.1:c.11953+2T>C XP_016867975.1:n.11953+2T>C
XM_017012487.1:c.11881+2T>C XP_016867976.1:n.11881+2T>C
XM_017012488.1:c.11845+2T>C XP_016867977.1:n.11845+2T>C
XM_017012489.1:c.8698+2T>C XP_016867978.1:n.8698+2T>C
XM_017012490.2:c.8302+2T>C XP_016867979.1:n.8302+2T>C
XM_024446852.1:c.12025+2T>C XP_024302620.1:n.12025+2T>C
XM_024446853.1:c.11953+2T>C XP_024302621.1:n.11953+2T>C
XR_428183.2:n.12165+2T>C
XR_428183.3:n.12189+2T>C