Canonical Allele Identifier: CA365622272
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465285A>T , CM000668.2:g.129465285A>T GRCh38
NC_000006.11:g.129786430A>T , CM000668.1:g.129786430A>T GRCh37
NC_000006.10:g.129828123A>T NCBI36
NG_008678.1:g.587145A>T , LRG_409:g.587145A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7296A>T ENSP00000481744.2:p.Lys2432Asn
ENST00000618192.5:c.7560A>T ENSP00000480802.2:p.Lys2520Asn
ENST00000684985.1:n.927A>T
ENST00000421865.3:c.7296A>T MANE Select ENSP00000400365.2:p.Lys2432Asn
ENST00000421865.2:c.7296A>T ENSP00000400365.2:p.Lys2432Asn
ENST00000617695.4:c.7296A>T ENSP00000481744.1:p.Lys2432Asn
ENST00000618192.4:c.7293A>T ENSP00000480802.1:p.Lys2431Asn
NM_000426.3:c.7296A>T , LRG_409t1:c.7296A>T NP_000417.2:p.Lys2432Asn
NM_001079823.1:c.7296A>T NP_001073291.1:p.Lys2432Asn
XM_005266981.2:c.7560A>T XP_005267038.1:p.Lys2520Asn
XM_005266982.2:c.7560A>T XP_005267039.1:p.Lys2520Asn
XM_011535820.1:c.7554A>T XP_011534122.1:p.Lys2518Asn
XM_005266981.3:c.7560A>T XP_005267038.1:p.Lys2520Asn
XM_005266982.3:c.7560A>T XP_005267039.1:p.Lys2520Asn
XM_011535820.2:c.7554A>T XP_011534122.1:p.Lys2518Asn
XM_017010851.2:c.7566A>T XP_016866340.1:p.Lys2522Asn
XM_017010852.1:c.5691A>T XP_016866341.1:p.Lys1897Asn
NM_000426.4:c.7296A>T MANE Select NP_000417.3:p.Lys2432Asn
NM_001079823.2:c.7296A>T NP_001073291.2:p.Lys2432Asn