Canonical Allele Identifier: CA220792
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92980
ClinVar RCV Id: RCV000178685 RCV000626687 RCV000760398 RCV001202930
dbSNP Id: rs398123383
ExAC: 6:129781432 C / T
gnomAD v2: 6-129781432-C-T
gnomAD v3: 6-129460287-C-T
gnomAD v4: 6-129460287-C-T
COSMIC: COSM3858199
MyVariant Identifiers: chr6:g.129781432C>T (hg19) chr6:g.129460287C>T (hg38)
PubMed: PMID:23891399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129460287C>T , CM000668.2:g.129460287C>T GRCh38
NC_000006.11:g.129781432C>T , CM000668.1:g.129781432C>T GRCh37
NC_000006.10:g.129823125C>T NCBI36
NG_008678.1:g.582147C>T , LRG_409:g.582147C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.6955C>T ENSP00000481744.2:p.Arg2319Ter
ENST00000618192.5:c.7219C>T ENSP00000480802.2:p.Arg2407Ter
ENST00000684985.1:n.586C>T
ENST00000688150.1:n.294C>T
ENST00000421865.3:c.6955C>T MANE Select ENSP00000400365.2:p.Arg2319Ter
ENST00000421865.2:c.6955C>T ENSP00000400365.2:p.Arg2319Ter
ENST00000617695.4:c.6955C>T ENSP00000481744.1:p.Arg2319Ter
ENST00000618192.4:c.6952C>T ENSP00000480802.1:p.Arg2318Ter
NM_000426.3:c.6955C>T , LRG_409t1:c.6955C>T NP_000417.2:p.Arg2319Ter
NM_001079823.1:c.6955C>T NP_001073291.1:p.Arg2319Ter
XM_005266981.2:c.7219C>T XP_005267038.1:p.Arg2407Ter
XM_005266982.2:c.7219C>T XP_005267039.1:p.Arg2407Ter
XM_011535820.1:c.7213C>T XP_011534122.1:p.Arg2405Ter
XM_005266981.3:c.7219C>T XP_005267038.1:p.Arg2407Ter
XM_005266982.3:c.7219C>T XP_005267039.1:p.Arg2407Ter
XM_011535820.2:c.7213C>T XP_011534122.1:p.Arg2405Ter
XM_017010851.2:c.7225C>T XP_016866340.1:p.Arg2409Ter
XM_017010852.1:c.5350C>T XP_016866341.1:p.Arg1784Ter
NM_000426.4:c.6955C>T MANE Select NP_000417.3:p.Arg2319Ter
NM_001079823.2:c.6955C>T NP_001073291.2:p.Arg2319Ter
Search 100 bp 5'
Search 100 bp 3'