Canonical Allele Identifier: CA2658965903

Linked Data

gnomAD v4: 2-47805055-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805055C>A , CM000664.2:g.47805055C>A GRCh38
NC_000002.11:g.48032194C>A , CM000664.1:g.48032194C>A GRCh37
NC_000002.10:g.47885698C>A NCBI36
NG_007111.1:g.26909C>A , LRG_219:g.26909C>A
NG_008397.1:g.105621G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3259+28C>A (MSH6) ENSP00000406248.2:n.3259+28C>A
ENST00000420813.6:c.3259+28C>A (MSH6) ENSP00000390382.2:n.3259+28C>A
ENST00000455383.6:c.3259+28C>A (MSH6) ENSP00000397484.2:n.3259+28C>A
ENST00000700004.2:c.3173-563C>A (MSH6) ENSP00000514752.2:n.3173-563C>A
ENST00000699999.1:n.3668C>A (MSH6)
ENST00000700000.1:c.1990+28C>A (MSH6) ENSP00000514749.1:n.1990+28C>A
ENST00000700002.1:c.3562+28C>A (MSH6) ENSP00000514750.1:n.3562+28C>A
ENST00000700003.1:c.1011+28C>A (MSH6) ENSP00000514751.1:n.1011+28C>A
ENST00000700004.1:c.2330-563C>A (MSH6) ENSP00000514752.1:n.2330-563C>A
ENST00000700005.1:n.2407+28C>A (MSH6)
ENST00000700006.1:n.3656C>A (MSH6)
ENST00000700007.1:n.1589C>A (MSH6)
ENST00000700008.1:n.1163C>A (MSH6)
ENST00000700009.1:n.1162C>A (MSH6)
ENST00000700010.1:n.965+28C>A (MSH6)
ENST00000700011.1:n.2288C>A (MSH6)
ENST00000234420.11:c.3556+28C>A (MSH6) MANE Select ENSP00000234420.5:n.3556+28C>A
ENST00000540021.6:c.3166+28C>A (MSH6) ENSP00000446475.1:n.3166+28C>A
ENST00000652107.1:c.3259+28C>A (MSH6) ENSP00000498629.1:n.3259+28C>A
ENST00000673637.1:c.3259+28C>A (MSH6) ENSP00000501310.1:n.3259+28C>A
ENST00000234420.9:c.3556+28C>A (MSH6) ENSP00000234420.4:n.3556+28C>A
ENST00000405808.5:c.169+3140G>T (FBXO11) ENSP00000385127.1:n.169+3140G>T
ENST00000434234.5:c.*124+2939G>T (FBXO11) ENSP00000402692.1:n.*124+2939G>T
ENST00000445503.5:c.*2903+28C>A (MSH6) ENSP00000405294.1:n.*2903+28C>A
ENST00000538136.1:c.2650+28C>A (MSH6) ENSP00000438580.1:n.2650+28C>A
ENST00000540021.5:c.3166+28C>A (MSH6) ENSP00000446475.1:n.3166+28C>A
ENST00000614496.4:c.2650+28C>A (MSH6) ENSP00000477844.1:n.2650+28C>A
ENST00000622629.4:c.460+28C>A (MSH6) ENSP00000482078.1:n.460+28C>A
NM_000179.2:c.3556+28C>A , LRG_219t1:c.3556+28C>A (MSH6) NP_000170.1:n.3556+28C>A
NM_001281492.1:c.3166+28C>A (MSH6) NP_001268421.1:n.3166+28C>A
NM_001281493.1:c.2650+28C>A (MSH6) NP_001268422.1:n.2650+28C>A
NM_001281494.1:c.2650+28C>A (MSH6) NP_001268423.1:n.2650+28C>A
XM_005264271.1:c.3259+28C>A (MSH6) XP_005264328.1:n.3259+28C>A
XM_011532798.1:c.3373+28C>A (MSH6) XP_011531100.1:n.3373+28C>A
XM_011532799.1:c.3259+28C>A (MSH6) XP_011531101.1:n.3259+28C>A
XM_011532800.1:c.3259+28C>A (MSH6) XP_011531102.1:n.3259+28C>A
XM_024452819.1:c.3556+28C>A (MSH6) XP_024308587.1:n.3556+28C>A
XM_024452820.1:c.3373+28C>A (MSH6) XP_024308588.1:n.3373+28C>A
XM_024452821.1:c.3259+28C>A (MSH6) XP_024308589.1:n.3259+28C>A
XM_024452822.1:c.2650+28C>A (MSH6) XP_024308590.1:n.2650+28C>A
NM_000179.3:c.3556+28C>A (MSH6) MANE Select NP_000170.1:n.3556+28C>A
NM_001281492.2:c.3166+28C>A (MSH6) NP_001268421.1:n.3166+28C>A
NM_001281493.2:c.2650+28C>A (MSH6) NP_001268422.1:n.2650+28C>A
NM_001281494.2:c.2650+28C>A (MSH6) NP_001268423.1:n.2650+28C>A