Canonical Allele Identifier: CA365628349
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481407C>T , CM000668.2:g.129481407C>T GRCh38
NC_000006.11:g.129802552C>T , CM000668.1:g.129802552C>T GRCh37
NC_000006.10:g.129844245C>T NCBI36
NG_008678.1:g.603267C>T , LRG_409:g.603267C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7705C>T ENSP00000481744.2:p.Pro2569Ser
ENST00000618192.5:c.7981C>T ENSP00000480802.2:p.Pro2661Ser
ENST00000421865.3:c.7717C>T MANE Select ENSP00000400365.2:p.Pro2573Ser
ENST00000421865.2:c.7717C>T ENSP00000400365.2:p.Pro2573Ser
ENST00000617695.4:c.7705C>T ENSP00000481744.1:p.Pro2569Ser
ENST00000618192.4:c.7714C>T ENSP00000480802.1:p.Pro2572Ser
NM_000426.3:c.7717C>T , LRG_409t1:c.7717C>T NP_000417.2:p.Pro2573Ser
NM_001079823.1:c.7705C>T NP_001073291.1:p.Pro2569Ser
XM_005266981.2:c.7981C>T XP_005267038.1:p.Pro2661Ser
XM_005266982.2:c.7969C>T XP_005267039.1:p.Pro2657Ser
XM_011535820.1:c.7975C>T XP_011534122.1:p.Pro2659Ser
XM_005266981.3:c.7981C>T XP_005267038.1:p.Pro2661Ser
XM_005266982.3:c.7969C>T XP_005267039.1:p.Pro2657Ser
XM_011535820.2:c.7975C>T XP_011534122.1:p.Pro2659Ser
XM_017010851.2:c.7987C>T XP_016866340.1:p.Pro2663Ser
XM_017010852.1:c.6112C>T XP_016866341.1:p.Pro2038Ser
NM_000426.4:c.7717C>T MANE Select NP_000417.3:p.Pro2573Ser
NM_001079823.2:c.7705C>T NP_001073291.2:p.Pro2569Ser