Canonical Allele Identifier: CA425997304

Linked Data

MyVariant Identifiers: chr2:g.48032836G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805697G>C , CM000664.2:g.47805697G>C GRCh38
NC_000002.11:g.48032836G>C , CM000664.1:g.48032836G>C GRCh37
NC_000002.10:g.47886340G>C NCBI36
NG_007111.1:g.27551G>C , LRG_219:g.27551G>C
NG_008397.1:g.104979C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3339G>C (MSH6) ENSP00000406248.2:p.Val1113=
ENST00000420813.6:c.3339G>C (MSH6) ENSP00000390382.2:p.Val1113=
ENST00000455383.6:c.3339G>C (MSH6) ENSP00000397484.2:p.Val1113=
ENST00000700004.2:c.3252G>C (MSH6) ENSP00000514752.2:p.Val1084=
ENST00000699999.1:n.4310G>C (MSH6)
ENST00000700000.1:c.2070G>C (MSH6) ENSP00000514749.1:p.Val690=
ENST00000700002.1:c.3642G>C (MSH6) ENSP00000514750.1:p.Val1214=
ENST00000700003.1:c.1091G>C (MSH6) ENSP00000514751.1:n.1091G>C
ENST00000700004.1:c.2409G>C (MSH6) ENSP00000514752.1:p.Val803=
ENST00000700005.1:n.2487G>C (MSH6)
ENST00000700006.1:n.4298G>C (MSH6)
ENST00000700007.1:n.2231G>C (MSH6)
ENST00000700008.1:n.1805G>C (MSH6)
ENST00000700009.1:n.1804G>C (MSH6)
ENST00000700010.1:n.1045G>C (MSH6)
ENST00000700011.1:n.2930G>C (MSH6)
ENST00000234420.11:c.3636G>C (MSH6) MANE Select ENSP00000234420.5:p.Val1212=
ENST00000540021.6:c.3246G>C (MSH6) ENSP00000446475.1:p.Val1082=
ENST00000652107.1:c.3339G>C (MSH6) ENSP00000498629.1:p.Val1113=
ENST00000673637.1:c.3339G>C (MSH6) ENSP00000501310.1:p.Val1113=
ENST00000234420.9:c.3636G>C (MSH6) ENSP00000234420.4:p.Val1212=
ENST00000405808.5:c.169+2498C>G (FBXO11) ENSP00000385127.1:n.169+2498C>G
ENST00000434234.5:c.*124+2297C>G (FBXO11) ENSP00000402692.1:n.*124+2297C>G
ENST00000445503.5:c.*2983G>C (MSH6) ENSP00000405294.1:n.*2983G>C
ENST00000538136.1:c.2730G>C (MSH6) ENSP00000438580.1:p.Val910=
ENST00000540021.5:c.3246G>C (MSH6) ENSP00000446475.1:p.Val1082=
ENST00000614496.4:c.2730G>C (MSH6) ENSP00000477844.1:p.Val910=
ENST00000622629.4:c.540G>C (MSH6) ENSP00000482078.1:p.Val180=
NM_000179.2:c.3636G>C , LRG_219t1:c.3636G>C (MSH6) NP_000170.1:p.Val1212=
NM_001281492.1:c.3246G>C (MSH6) NP_001268421.1:p.Val1082=
NM_001281493.1:c.2730G>C (MSH6) NP_001268422.1:p.Val910=
NM_001281494.1:c.2730G>C (MSH6) NP_001268423.1:p.Val910=
XM_005264271.1:c.3339G>C (MSH6) XP_005264328.1:p.Val1113=
XM_011532798.1:c.3453G>C (MSH6) XP_011531100.1:p.Val1151=
XM_011532799.1:c.3339G>C (MSH6) XP_011531101.1:p.Val1113=
XM_011532800.1:c.3339G>C (MSH6) XP_011531102.1:p.Val1113=
XM_024452819.1:c.3636G>C (MSH6) XP_024308587.1:p.Val1212=
XM_024452820.1:c.3453G>C (MSH6) XP_024308588.1:p.Val1151=
XM_024452821.1:c.3339G>C (MSH6) XP_024308589.1:p.Val1113=
XM_024452822.1:c.2730G>C (MSH6) XP_024308590.1:p.Val910=
NM_000179.3:c.3636G>C (MSH6) MANE Select NP_000170.1:p.Val1212=
NM_001281492.2:c.3246G>C (MSH6) NP_001268421.1:p.Val1082=
NM_001281493.2:c.2730G>C (MSH6) NP_001268422.1:p.Val910=
NM_001281494.2:c.2730G>C (MSH6) NP_001268423.1:p.Val910=