Canonical Allele Identifier: CA2580074992
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725233
ClinVar RCV Id: RCV002308292

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465269_129465272del , CM000668.2:g.129465269_129465272del GRCh38
NC_000006.11:g.129786414_129786417del , CM000668.1:g.129786414_129786417del GRCh37
NC_000006.10:g.129828107_129828110del NCBI36
NG_008678.1:g.587129_587132del , LRG_409:g.587129_587132del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7280_7283del ENSP00000481744.2:p.Leu2427GlnfsTer12
ENST00000618192.5:c.7544_7547del ENSP00000480802.2:p.Leu2515GlnfsTer12
ENST00000684985.1:n.911_914del
ENST00000421865.3:c.7280_7283del MANE Select ENSP00000400365.2:p.Leu2427GlnfsTer12
ENST00000421865.2:c.7280_7283del ENSP00000400365.2:p.Leu2427GlnfsTer12
ENST00000617695.4:c.7280_7283del ENSP00000481744.1:p.Leu2427GlnfsTer12
ENST00000618192.4:c.7277_7280del ENSP00000480802.1:p.Leu2426GlnfsTer12
NM_000426.3:c.7280_7283del , LRG_409t1:c.7280_7283del NP_000417.2:p.Leu2427GlnfsTer12
NM_001079823.1:c.7280_7283del NP_001073291.1:p.Leu2427GlnfsTer12
XM_005266981.2:c.7544_7547del XP_005267038.1:p.Leu2515GlnfsTer12
XM_005266982.2:c.7544_7547del XP_005267039.1:p.Leu2515GlnfsTer12
XM_011535820.1:c.7538_7541del XP_011534122.1:p.Leu2513GlnfsTer12
XM_005266981.3:c.7544_7547del XP_005267038.1:p.Leu2515GlnfsTer12
XM_005266982.3:c.7544_7547del XP_005267039.1:p.Leu2515GlnfsTer12
XM_011535820.2:c.7538_7541del XP_011534122.1:p.Leu2513GlnfsTer12
XM_017010851.2:c.7550_7553del XP_016866340.1:p.Leu2517GlnfsTer12
XM_017010852.1:c.5675_5678del XP_016866341.1:p.Leu1892GlnfsTer12
NM_000426.4:c.7280_7283del MANE Select NP_000417.3:p.Leu2427GlnfsTer12
NM_001079823.2:c.7280_7283del NP_001073291.2:p.Leu2427GlnfsTer12