Canonical Allele Identifier: CA365622027
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465243T>G , CM000668.2:g.129465243T>G GRCh38
NC_000006.11:g.129786388T>G , CM000668.1:g.129786388T>G GRCh37
NC_000006.10:g.129828081T>G NCBI36
NG_008678.1:g.587103T>G , LRG_409:g.587103T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7254T>G ENSP00000481744.2:p.Asn2418Lys
ENST00000618192.5:c.7518T>G ENSP00000480802.2:p.Asn2506Lys
ENST00000684985.1:n.885T>G
ENST00000421865.3:c.7254T>G MANE Select ENSP00000400365.2:p.Asn2418Lys
ENST00000421865.2:c.7254T>G ENSP00000400365.2:p.Asn2418Lys
ENST00000617695.4:c.7254T>G ENSP00000481744.1:p.Asn2418Lys
ENST00000618192.4:c.7251T>G ENSP00000480802.1:p.Asn2417Lys
NM_000426.3:c.7254T>G , LRG_409t1:c.7254T>G NP_000417.2:p.Asn2418Lys
NM_001079823.1:c.7254T>G NP_001073291.1:p.Asn2418Lys
XM_005266981.2:c.7518T>G XP_005267038.1:p.Asn2506Lys
XM_005266982.2:c.7518T>G XP_005267039.1:p.Asn2506Lys
XM_011535820.1:c.7512T>G XP_011534122.1:p.Asn2504Lys
XM_005266981.3:c.7518T>G XP_005267038.1:p.Asn2506Lys
XM_005266982.3:c.7518T>G XP_005267039.1:p.Asn2506Lys
XM_011535820.2:c.7512T>G XP_011534122.1:p.Asn2504Lys
XM_017010851.2:c.7524T>G XP_016866340.1:p.Asn2508Lys
XM_017010852.1:c.5649T>G XP_016866341.1:p.Asn1883Lys
NM_000426.4:c.7254T>G MANE Select NP_000417.3:p.Asn2418Lys
NM_001079823.2:c.7254T>G NP_001073291.2:p.Asn2418Lys