Canonical Allele Identifier: CA365626127
Gene: LAMA2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129478692G>A , CM000668.2:g.129478692G>A GRCh38
NC_000006.11:g.129799837G>A , CM000668.1:g.129799837G>A GRCh37
NC_000006.10:g.129841530G>A NCBI36
NG_008678.1:g.600552G>A , LRG_409:g.600552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7440-1G>A ENSP00000481744.2:n.7440-1G>A
ENST00000618192.5:c.7716-1G>A ENSP00000480802.2:n.7716-1G>A
ENST00000421865.3:c.7452-1G>A MANE Select ENSP00000400365.2:n.7452-1G>A
ENST00000421865.2:c.7452-1G>A ENSP00000400365.2:n.7452-1G>A
ENST00000617695.4:c.7440-1G>A ENSP00000481744.1:n.7440-1G>A
ENST00000618192.4:c.7449-1G>A ENSP00000480802.1:n.7449-1G>A
NM_000426.3:c.7452-1G>A , LRG_409t1:c.7452-1G>A NP_000417.2:n.7452-1G>A
NM_001079823.1:c.7440-1G>A NP_001073291.1:n.7440-1G>A
XM_005266981.2:c.7716-1G>A XP_005267038.1:n.7716-1G>A
XM_005266982.2:c.7704-1G>A XP_005267039.1:n.7704-1G>A
XM_011535820.1:c.7710-1G>A XP_011534122.1:n.7710-1G>A
XM_005266981.3:c.7716-1G>A XP_005267038.1:n.7716-1G>A
XM_005266982.3:c.7704-1G>A XP_005267039.1:n.7704-1G>A
XM_011535820.2:c.7710-1G>A XP_011534122.1:n.7710-1G>A
XM_017010851.2:c.7722-1G>A XP_016866340.1:n.7722-1G>A
XM_017010852.1:c.5847-1G>A XP_016866341.1:n.5847-1G>A
NM_000426.4:c.7452-1G>A MANE Select NP_000417.3:n.7452-1G>A
NM_001079823.2:c.7440-1G>A NP_001073291.2:n.7440-1G>A