Canonical Allele Identifier: CA365621620
Gene: LAMA2 HGNC NCBI

Linked Data

dbSNP Id: rs1783478654

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465188T>C , CM000668.2:g.129465188T>C GRCh38
NC_000006.11:g.129786333T>C , CM000668.1:g.129786333T>C GRCh37
NC_000006.10:g.129828026T>C NCBI36
NG_008678.1:g.587048T>C , LRG_409:g.587048T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7199T>C ENSP00000481744.2:p.Val2400Ala
ENST00000618192.5:c.7463T>C ENSP00000480802.2:p.Val2488Ala
ENST00000684985.1:n.830T>C
ENST00000688150.1:n.538T>C
ENST00000421865.3:c.7199T>C MANE Select ENSP00000400365.2:p.Val2400Ala
ENST00000421865.2:c.7199T>C ENSP00000400365.2:p.Val2400Ala
ENST00000617695.4:c.7199T>C ENSP00000481744.1:p.Val2400Ala
ENST00000618192.4:c.7196T>C ENSP00000480802.1:p.Val2399Ala
NM_000426.3:c.7199T>C , LRG_409t1:c.7199T>C NP_000417.2:p.Val2400Ala
NM_001079823.1:c.7199T>C NP_001073291.1:p.Val2400Ala
XM_005266981.2:c.7463T>C XP_005267038.1:p.Val2488Ala
XM_005266982.2:c.7463T>C XP_005267039.1:p.Val2488Ala
XM_011535820.1:c.7457T>C XP_011534122.1:p.Val2486Ala
XM_005266981.3:c.7463T>C XP_005267038.1:p.Val2488Ala
XM_005266982.3:c.7463T>C XP_005267039.1:p.Val2488Ala
XM_011535820.2:c.7457T>C XP_011534122.1:p.Val2486Ala
XM_017010851.2:c.7469T>C XP_016866340.1:p.Val2490Ala
XM_017010852.1:c.5594T>C XP_016866341.1:p.Val1865Ala
NM_000426.4:c.7199T>C MANE Select NP_000417.3:p.Val2400Ala
NM_001079823.2:c.7199T>C NP_001073291.2:p.Val2400Ala