Canonical Allele Identifier: CA266813
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92973
ClinVar RCV Id: RCV000078784 RCV001814047
dbSNP Id: rs398123380
MyVariant Identifiers: chr6:g.129759860del (hg19) chr6:g.129759860delT (hg19) chr6:g.129438715del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129438715del , CM000668.2:g.129438715del GRCh38
NC_000006.11:g.129759860del , CM000668.1:g.129759860del GRCh37
NC_000006.10:g.129801553del NCBI36
NG_008678.1:g.560575del , LRG_409:g.560575del

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.6038del ENSP00000481744.2:p.Leu2013Ter
ENST00000618192.5:c.6302del ENSP00000480802.2:p.Leu2101Ter
ENST00000421865.3:c.6038del MANE Select ENSP00000400365.2:p.Leu2013Ter
ENST00000421865.2:c.6038del ENSP00000400365.2:p.Leu2013Ter
ENST00000617695.4:c.6038del ENSP00000481744.1:p.Leu2013Ter
ENST00000618192.4:c.6038del ENSP00000480802.1:p.Leu2013Ter
NM_000426.3:c.6038del , LRG_409t1:c.6038del NP_000417.2:p.Leu2013Ter
NM_001079823.1:c.6038del NP_001073291.1:p.Leu2013Ter
XM_005266981.2:c.6302del XP_005267038.1:p.Leu2101Ter
XM_005266982.2:c.6302del XP_005267039.1:p.Leu2101Ter
XM_011535820.1:c.6302del XP_011534122.1:p.Leu2101Ter
XM_005266981.3:c.6302del XP_005267038.1:p.Leu2101Ter
XM_005266982.3:c.6302del XP_005267039.1:p.Leu2101Ter
XM_011535820.2:c.6302del XP_011534122.1:p.Leu2101Ter
XM_017010851.2:c.6308del XP_016866340.1:p.Leu2103Ter
XM_017010852.1:c.4433del XP_016866341.1:p.Leu1478Ter
NM_000426.4:c.6038del MANE Select NP_000417.3:p.Leu2013Ter
NM_001079823.2:c.6038del NP_001073291.2:p.Leu2013Ter
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