Canonical Allele Identifier: CA16621847
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425393
ClinVar RCV Id: RCV000488369
dbSNP Id: rs1064797328

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129460317_129460320del , CM000668.2:g.129460317_129460320del GRCh38
NC_000006.11:g.129781462_129781465del , CM000668.1:g.129781462_129781465del GRCh37
NC_000006.10:g.129823155_129823158del NCBI36
NG_008678.1:g.582177_582180del , LRG_409:g.582177_582180del

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.6985_6988del ENSP00000481744.2:p.Thr2329SerfsTer?
ENST00000618192.5:c.7249_7252del ENSP00000480802.2:p.Thr2417SerfsTer?
ENST00000684985.1:n.616_619del
ENST00000688150.1:n.324_327del
ENST00000421865.3:c.6985_6988del MANE Select ENSP00000400365.2:p.Thr2329SerfsTer?
ENST00000421865.2:c.6985_6988del ENSP00000400365.2:p.Thr2329SerfsTer?
ENST00000617695.4:c.6985_6988del ENSP00000481744.1:p.Thr2329SerfsTer?
ENST00000618192.4:c.6982_6985del ENSP00000480802.1:p.Thr2328SerfsTer?
NM_000426.3:c.6985_6988del , LRG_409t1:c.6985_6988del NP_000417.2:p.Thr2329SerfsTer?
NM_001079823.1:c.6985_6988del NP_001073291.1:p.Thr2329SerfsTer?
XM_005266981.2:c.7249_7252del XP_005267038.1:p.Thr2417SerfsTer?
XM_005266982.2:c.7249_7252del XP_005267039.1:p.Thr2417SerfsTer?
XM_011535820.1:c.7243_7246del XP_011534122.1:p.Thr2415SerfsTer?
XM_005266981.3:c.7249_7252del XP_005267038.1:p.Thr2417SerfsTer?
XM_005266982.3:c.7249_7252del XP_005267039.1:p.Thr2417SerfsTer?
XM_011535820.2:c.7243_7246del XP_011534122.1:p.Thr2415SerfsTer?
XM_017010851.2:c.7255_7258del XP_016866340.1:p.Thr2419SerfsTer?
XM_017010852.1:c.5380_5383del XP_016866341.1:p.Thr1794SerfsTer?
NM_000426.4:c.6985_6988del MANE Select NP_000417.3:p.Thr2329SerfsTer?
NM_001079823.2:c.6985_6988del NP_001073291.2:p.Thr2329SerfsTer?