Canonical Allele Identifier: CA365622078
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465252A>C , CM000668.2:g.129465252A>C GRCh38
NC_000006.11:g.129786397A>C , CM000668.1:g.129786397A>C GRCh37
NC_000006.10:g.129828090A>C NCBI36
NG_008678.1:g.587112A>C , LRG_409:g.587112A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7263A>C ENSP00000481744.2:p.Lys2421Asn
ENST00000618192.5:c.7527A>C ENSP00000480802.2:p.Lys2509Asn
ENST00000684985.1:n.894A>C
ENST00000421865.3:c.7263A>C MANE Select ENSP00000400365.2:p.Lys2421Asn
ENST00000421865.2:c.7263A>C ENSP00000400365.2:p.Lys2421Asn
ENST00000617695.4:c.7263A>C ENSP00000481744.1:p.Lys2421Asn
ENST00000618192.4:c.7260A>C ENSP00000480802.1:p.Lys2420Asn
NM_000426.3:c.7263A>C , LRG_409t1:c.7263A>C NP_000417.2:p.Lys2421Asn
NM_001079823.1:c.7263A>C NP_001073291.1:p.Lys2421Asn
XM_005266981.2:c.7527A>C XP_005267038.1:p.Lys2509Asn
XM_005266982.2:c.7527A>C XP_005267039.1:p.Lys2509Asn
XM_011535820.1:c.7521A>C XP_011534122.1:p.Lys2507Asn
XM_005266981.3:c.7527A>C XP_005267038.1:p.Lys2509Asn
XM_005266982.3:c.7527A>C XP_005267039.1:p.Lys2509Asn
XM_011535820.2:c.7521A>C XP_011534122.1:p.Lys2507Asn
XM_017010851.2:c.7533A>C XP_016866340.1:p.Lys2511Asn
XM_017010852.1:c.5658A>C XP_016866341.1:p.Lys1886Asn
NM_000426.4:c.7263A>C MANE Select NP_000417.3:p.Lys2421Asn
NM_001079823.2:c.7263A>C NP_001073291.2:p.Lys2421Asn