Canonical Allele Identifier: CA342966
Gene: LAMA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38339
dbSNP Id: rs202247791

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129250183_129250190dup , CM000668.2:g.129250183_129250190dup GRCh38
NC_000006.10:g.129613021_129613028dup NCBI36
NC_000006.11:g.129571328_129571335dup , CM000668.1:g.129571328_129571335dup GRCh37
NG_008678.1:g.372043_372050dup , LRG_409:g.372043_372050dup

Transcript Alleles

HGVS Amino-acid change
ENST00000421865.2:c.1854_1861dup ENSP00000400365.2:p.Leu621HisfsTer7
ENST00000617695.4:c.1854_1861dup ENSP00000481744.1:p.Leu621HisfsTer7
ENST00000618192.4:c.1854_1861dup ENSP00000480802.1:p.Leu621HisfsTer7
NM_000426.3:c.1854_1861dup , LRG_409t1:c.1854_1861dup NP_000417.2:p.Leu621HisfsTer7
NM_001079823.1:c.1854_1861dup NP_001073291.1:p.Leu621HisfsTer7
XM_005266981.2:c.1854_1861dup XP_005267038.1:p.Leu621HisfsTer7
XM_005266982.2:c.1854_1861dup XP_005267039.1:p.Leu621HisfsTer7
XM_011535820.1:c.1854_1861dup XP_011534122.1:p.Leu621HisfsTer7