Canonical Allele Identifier: CA194226

Gene: MRE11

Linked Data

• ClinVar Variation Id: 186243
• ClinVar RCV Id: RCV000165802 ; RCV000416696 ; RCV000642458 ; RCV003468758 ; RCV003480069
• dbSNP Id: rs786202801
• gnomAD v2: 11-94163075-A-T
• gnomAD v3: 11-94429909-A-T
• gnomAD v4: 11-94429909-A-T
• MyVariant Identifiers: chr11:g.94163075A>T (hg19) ; chr11:g.94429909A>T (hg38)
• PubMed: PMID:26898890

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94429909A>T , CM000673.2:g.94429909A>T	GRCh38
NC_000011.9:g.94163075A>T , CM000673.1:g.94163075A>T	GRCh37
NC_000011.8:g.93802723A>T	NCBI36
NG_007261.1:g.68966T>A , LRG_85:g.68966T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.2070+2T>A MANE Select	ENSP00000325863.4:n.2070+2T>A
ENST00000323929.7:c.2070+2T>A	ENSP00000325863.3:n.2070+2T>A
ENST00000323977.7:c.1986+2T>A	ENSP00000326094.3:n.1986+2T>A
ENST00000393241.8:c.2067+2T>A	ENSP00000376933.4:n.2067+2T>A
ENST00000407439.7:c.2079+2T>A	ENSP00000385614.3:n.2079+2T>A
NM_005590.3:c.1986+2T>A	NP_005581.2:n.1986+2T>A
NM_005591.3:c.2070+2T>A , LRG_85t1:c.2070+2T>A	NP_005582.1:n.2070+2T>A
XM_005274008.2:c.1602+2T>A	XP_005274065.1:n.1602+2T>A
XM_006718842.2:c.2067+2T>A	XP_006718905.1:n.2067+2T>A
XM_011542837.1:c.2070+2T>A	XP_011541139.1:n.2070+2T>A
XR_947828.1:n.2366+2T>A
NM_001330347.1:c.2067+2T>A	NP_001317276.1:n.2067+2T>A
XM_005274008.3:c.1602+2T>A	XP_005274065.1:n.1602+2T>A
XM_006718842.3:c.2067+2T>A	XP_006718905.1:n.2067+2T>A
XM_011542837.2:c.2070+2T>A	XP_011541139.1:n.2070+2T>A
XM_017017772.1:c.2070+2T>A	XP_016873261.1:n.2070+2T>A
XR_947828.2:n.2366+2T>A
NM_001330347.2:c.2067+2T>A	NP_001317276.1:n.2067+2T>A
NM_005590.4:c.1986+2T>A	NP_005581.2:n.1986+2T>A
NM_005591.4:c.2070+2T>A MANE Select	NP_005582.1:n.2070+2T>A