Canonical Allele Identifier: CA342967
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129486605T>G , CM000668.2:g.129486605T>G GRCh38
NC_000006.11:g.129807750T>G , CM000668.1:g.129807750T>G GRCh37
NC_000006.10:g.129849443T>G NCBI36
NG_008678.1:g.608465T>G , LRG_409:g.608465T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7869T>G ENSP00000481744.2:p.His2623Gln
ENST00000618192.5:c.8145T>G ENSP00000480802.2:p.His2715Gln
ENST00000688198.1:n.859T>G
ENST00000421865.3:c.7881T>G MANE Select ENSP00000400365.2:p.His2627Gln
ENST00000421865.2:c.7881T>G ENSP00000400365.2:p.His2627Gln
ENST00000617695.4:c.7869T>G ENSP00000481744.1:p.His2623Gln
ENST00000618192.4:c.7878T>G ENSP00000480802.1:p.His2626Gln
NM_000426.3:c.7881T>G , LRG_409t1:c.7881T>G NP_000417.2:p.His2627Gln
NM_001079823.1:c.7869T>G NP_001073291.1:p.His2623Gln
XM_005266981.2:c.8145T>G XP_005267038.1:p.His2715Gln
XM_005266982.2:c.8133T>G XP_005267039.1:p.His2711Gln
XM_011535820.1:c.8139T>G XP_011534122.1:p.His2713Gln
XM_005266981.3:c.8145T>G XP_005267038.1:p.His2715Gln
XM_005266982.3:c.8133T>G XP_005267039.1:p.His2711Gln
XM_011535820.2:c.8139T>G XP_011534122.1:p.His2713Gln
XM_017010851.2:c.8151T>G XP_016866340.1:p.His2717Gln
XM_017010852.1:c.6276T>G XP_016866341.1:p.His2092Gln
NM_000426.4:c.7881T>G MANE Select NP_000417.3:p.His2627Gln
NM_001079823.2:c.7869T>G NP_001073291.2:p.His2623Gln