Canonical Allele Identifier: CA365628341
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481405C>A , CM000668.2:g.129481405C>A GRCh38
NC_000006.11:g.129802550C>A , CM000668.1:g.129802550C>A GRCh37
NC_000006.10:g.129844243C>A NCBI36
NG_008678.1:g.603265C>A , LRG_409:g.603265C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7703C>A ENSP00000481744.2:p.Ala2568Glu
ENST00000618192.5:c.7979C>A ENSP00000480802.2:p.Ala2660Glu
ENST00000421865.3:c.7715C>A MANE Select ENSP00000400365.2:p.Ala2572Glu
ENST00000421865.2:c.7715C>A ENSP00000400365.2:p.Ala2572Glu
ENST00000617695.4:c.7703C>A ENSP00000481744.1:p.Ala2568Glu
ENST00000618192.4:c.7712C>A ENSP00000480802.1:p.Ala2571Glu
NM_000426.3:c.7715C>A , LRG_409t1:c.7715C>A NP_000417.2:p.Ala2572Glu
NM_001079823.1:c.7703C>A NP_001073291.1:p.Ala2568Glu
XM_005266981.2:c.7979C>A XP_005267038.1:p.Ala2660Glu
XM_005266982.2:c.7967C>A XP_005267039.1:p.Ala2656Glu
XM_011535820.1:c.7973C>A XP_011534122.1:p.Ala2658Glu
XM_005266981.3:c.7979C>A XP_005267038.1:p.Ala2660Glu
XM_005266982.3:c.7967C>A XP_005267039.1:p.Ala2656Glu
XM_011535820.2:c.7973C>A XP_011534122.1:p.Ala2658Glu
XM_017010851.2:c.7985C>A XP_016866340.1:p.Ala2662Glu
XM_017010852.1:c.6110C>A XP_016866341.1:p.Ala2037Glu
NM_000426.4:c.7715C>A MANE Select NP_000417.3:p.Ala2572Glu
NM_001079823.2:c.7703C>A NP_001073291.2:p.Ala2568Glu