Canonical Allele Identifier: CA146118
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92953
dbSNP Id: rs17741922

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129315461T>G , CM000668.2:g.129315461T>G GRCh38
NC_000006.11:g.129636606T>G , CM000668.1:g.129636606T>G GRCh37
NC_000006.10:g.129678299T>G NCBI36
NG_008678.1:g.437321T>G , LRG_409:g.437321T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000421865.3:c.3556-15T>G MANE Select ENSP00000400365.2:p.=
ENST00000421865.2:c.3556-15T>G ENSP00000400365.2:p.=
ENST00000617695.4:c.3556-15T>G ENSP00000481744.1:p.=
ENST00000618192.4:c.3556-15T>G ENSP00000480802.1:p.=
NM_000426.3:c.3556-15T>G , LRG_409t1:c.3556-15T>G NP_000417.2:p.=
NM_001079823.1:c.3556-15T>G NP_001073291.1:p.=
XM_005266981.2:c.3820-15T>G XP_005267038.1:p.=
XM_005266982.2:c.3820-15T>G XP_005267039.1:p.=
XM_011535820.1:c.3820-15T>G XP_011534122.1:p.=
XM_005266981.3:c.3820-15T>G XP_005267038.1:p.=
XM_005266982.3:c.3820-15T>G XP_005267039.1:p.=
XM_011535820.2:c.3820-15T>G XP_011534122.1:p.=
XM_017010851.2:c.3826-15T>G XP_016866340.1:p.=
XM_017010852.1:c.1951-15T>G XP_016866341.1:p.=
XM_017010853.1:c.3820-15T>G XP_016866342.1:p.=
NM_000426.4:c.3556-15T>G MANE Select NP_000417.3:p.=
NM_001079823.2:c.3556-15T>G NP_001073291.2:p.=