Canonical Allele Identifier: CA365628422
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481428C>G , CM000668.2:g.129481428C>G GRCh38
NC_000006.11:g.129802573C>G , CM000668.1:g.129802573C>G GRCh37
NC_000006.10:g.129844266C>G NCBI36
NG_008678.1:g.603288C>G , LRG_409:g.603288C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7726C>G ENSP00000481744.2:p.Gln2576Glu
ENST00000618192.5:c.8002C>G ENSP00000480802.2:p.Gln2668Glu
ENST00000421865.3:c.7738C>G MANE Select ENSP00000400365.2:p.Gln2580Glu
ENST00000421865.2:c.7738C>G ENSP00000400365.2:p.Gln2580Glu
ENST00000617695.4:c.7726C>G ENSP00000481744.1:p.Gln2576Glu
ENST00000618192.4:c.7735C>G ENSP00000480802.1:p.Gln2579Glu
NM_000426.3:c.7738C>G , LRG_409t1:c.7738C>G NP_000417.2:p.Gln2580Glu
NM_001079823.1:c.7726C>G NP_001073291.1:p.Gln2576Glu
XM_005266981.2:c.8002C>G XP_005267038.1:p.Gln2668Glu
XM_005266982.2:c.7990C>G XP_005267039.1:p.Gln2664Glu
XM_011535820.1:c.7996C>G XP_011534122.1:p.Gln2666Glu
XM_005266981.3:c.8002C>G XP_005267038.1:p.Gln2668Glu
XM_005266982.3:c.7990C>G XP_005267039.1:p.Gln2664Glu
XM_011535820.2:c.7996C>G XP_011534122.1:p.Gln2666Glu
XM_017010851.2:c.8008C>G XP_016866340.1:p.Gln2670Glu
XM_017010852.1:c.6133C>G XP_016866341.1:p.Gln2045Glu
NM_000426.4:c.7738C>G MANE Select NP_000417.3:p.Gln2580Glu
NM_001079823.2:c.7726C>G NP_001073291.2:p.Gln2576Glu