Canonical Allele Identifier: CA16042658
Gene: LAMA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372750
ClinVar RCV Id: RCV000414051

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129502657A>G , CM000668.2:g.129502657A>G GRCh38
NC_000006.11:g.129823802A>G , CM000668.1:g.129823802A>G GRCh37
NC_000006.10:g.129865495A>G NCBI36
NG_008678.1:g.624517A>G , LRG_409:g.624517A>G

Transcript Alleles

HGVS Amino-acid change
NM_000426.3:c.8245-2A>G , LRG_409t1:c.8245-2A>G NP_000417.2:p.=
NM_001079823.1:c.8233-2A>G VV NP_001073291.1:p.=
XM_005266981.2:c.8509-2A>G XP_005267038.1:p.=
XM_005266982.2:c.8497-2A>G XP_005267039.1:p.=
XM_011535820.1:c.8503-2A>G XP_011534122.1:p.=
XM_005266981.3:c.8509-2A>G
XM_005266982.3:c.8497-2A>G
XM_011535820.2:c.8503-2A>G
XM_017010851.2:c.8515-2A>G XP_016866340.1:p.=
XM_017010852.1:c.6640-2A>G XP_016866341.1:p.=
XR_001743859.1:n.4035T>C
XR_001743860.1:n.1314T>C
XR_001743861.1:n.1481T>C
XR_001743863.1:n.1017T>C
XR_002956395.1:n.9266T>C
XR_002956396.1:n.3261T>C
ENST00000421865.2:c.8245-2A>G ENSP00000400365.2:p.=
ENST00000498257.5:n.558-2A>G
ENST00000617695.4:c.8233-2A>G ENSP00000481744.1:p.=
ENST00000618192.4:c.8242-2A>G ENSP00000480802.1:p.=