Canonical Allele Identifier: CA009128

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 182625
• ClinVar RCV Id: RCV000160670 ; RCV000545304 ; RCV000774598 ; RCV000781596
• dbSNP Id: rs730881792
• gnomAD v2: 2-48026879-T-C
• gnomAD v3: 2-47799740-T-C
• gnomAD v4: 2-47799740-T-C
• MyVariant Identifiers: chr2:g.48026879T>C (hg19) ; chr2:g.47799740T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799740T>C , CM000664.2:g.47799740T>C	GRCh38
NC_000002.11:g.48026879T>C , CM000664.1:g.48026879T>C	GRCh37
NC_000002.10:g.47880383T>C	NCBI36
NG_007111.1:g.21594T>C , LRG_219:g.21594T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1460T>C (MSH6)	ENSP00000406248.2:p.Val487Ala
ENST00000420813.6:c.1460T>C (MSH6)	ENSP00000390382.2:p.Val487Ala
ENST00000455383.6:c.1460T>C (MSH6)	ENSP00000397484.2:p.Val487Ala
ENST00000700004.2:c.1757T>C (MSH6)	ENSP00000514752.2:p.Val586Ala
ENST00000699999.1:n.1841T>C (MSH6)
ENST00000700000.1:c.1606+151T>C (MSH6)	ENSP00000514749.1:n.1606+151T>C
ENST00000700002.1:c.1763T>C (MSH6)	ENSP00000514750.1:p.Val588Ala
ENST00000700003.1:c.627+3677T>C (MSH6)	ENSP00000514751.1:n.627+3677T>C
ENST00000700004.1:c.914T>C (MSH6)	ENSP00000514752.1:p.Val305Ala
ENST00000234420.11:c.1757T>C (MSH6) MANE Select	ENSP00000234420.5:p.Val586Ala
ENST00000540021.6:c.1367T>C (MSH6)	ENSP00000446475.1:p.Val456Ala
ENST00000652107.1:c.1460T>C (MSH6)	ENSP00000498629.1:p.Val487Ala
ENST00000673637.1:c.1460T>C (MSH6)	ENSP00000501310.1:p.Val487Ala
ENST00000234420.9:c.1757T>C (MSH6)	ENSP00000234420.4:p.Val586Ala
ENST00000405808.5:c.169+8455A>G (FBXO11)	ENSP00000385127.1:n.169+8455A>G
ENST00000434234.5:c.*124+8254A>G (FBXO11)	ENSP00000402692.1:n.*124+8254A>G
ENST00000445503.5:c.*1104T>C (MSH6)	ENSP00000405294.1:n.*1104T>C
ENST00000538136.1:c.851T>C (MSH6)	ENSP00000438580.1:p.Val284Ala
ENST00000540021.5:c.1367T>C (MSH6)	ENSP00000446475.1:p.Val456Ala
ENST00000614496.4:c.851T>C (MSH6)	ENSP00000477844.1:p.Val284Ala
ENST00000616033.4:c.1754T>C (MSH6)	ENSP00000480261.1:p.Val585Ala
ENST00000622629.4:c.-1340T>C (MSH6)	ENSP00000482078.1:n.-1340T>C
NM_000179.2:c.1757T>C , LRG_219t1:c.1757T>C (MSH6)	NP_000170.1:p.Val586Ala
NM_001281492.1:c.1367T>C (MSH6)	NP_001268421.1:p.Val456Ala
NM_001281493.1:c.851T>C (MSH6)	NP_001268422.1:p.Val284Ala
NM_001281494.1:c.851T>C (MSH6)	NP_001268423.1:p.Val284Ala
XM_005264271.1:c.1460T>C (MSH6)	XP_005264328.1:p.Val487Ala
XM_011532798.1:c.1574T>C (MSH6)	XP_011531100.1:p.Val525Ala
XM_011532799.1:c.1460T>C (MSH6)	XP_011531101.1:p.Val487Ala
XM_011532800.1:c.1460T>C (MSH6)	XP_011531102.1:p.Val487Ala
XM_024452819.1:c.1757T>C (MSH6)	XP_024308587.1:p.Val586Ala
XM_024452820.1:c.1574T>C (MSH6)	XP_024308588.1:p.Val525Ala
XM_024452821.1:c.1460T>C (MSH6)	XP_024308589.1:p.Val487Ala
XM_024452822.1:c.851T>C (MSH6)	XP_024308590.1:p.Val284Ala
NM_000179.3:c.1757T>C (MSH6) MANE Select	NP_000170.1:p.Val586Ala
NM_001281492.2:c.1367T>C (MSH6)	NP_001268421.1:p.Val456Ala
NM_001281493.2:c.851T>C (MSH6)	NP_001268422.1:p.Val284Ala
NM_001281494.2:c.851T>C (MSH6)	NP_001268423.1:p.Val284Ala