Canonical Allele Identifier: CA3992654
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 938363
dbSNP Id: rs760095810

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129190326C>G , CM000668.2:g.129190326C>G GRCh38
NC_000006.11:g.129511471C>G , CM000668.1:g.129511471C>G GRCh37
NC_000006.10:g.129553164C>G NCBI36
NG_008678.1:g.312186C>G , LRG_409:g.312186C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.1589C>G ENSP00000481744.2:p.Ser530Cys
ENST00000618192.5:c.1589C>G ENSP00000480802.2:p.Ser530Cys
ENST00000686599.1:n.1694C>G
ENST00000690881.1:n.1052C>G
ENST00000421865.3:c.1589C>G MANE Select ENSP00000400365.2:p.Ser530Cys
ENST00000421865.2:c.1589C>G ENSP00000400365.2:p.Ser530Cys
ENST00000617695.4:c.1589C>G ENSP00000481744.1:p.Ser530Cys
ENST00000618192.4:c.1589C>G ENSP00000480802.1:p.Ser530Cys
NM_000426.3:c.1589C>G , LRG_409t1:c.1589C>G NP_000417.2:p.Ser530Cys
NM_001079823.1:c.1589C>G NP_001073291.1:p.Ser530Cys
XM_005266981.2:c.1589C>G XP_005267038.1:p.Ser530Cys
XM_005266982.2:c.1589C>G XP_005267039.1:p.Ser530Cys
XM_011535820.1:c.1589C>G XP_011534122.1:p.Ser530Cys
XM_005266981.3:c.1589C>G XP_005267038.1:p.Ser530Cys
XM_005266982.3:c.1589C>G XP_005267039.1:p.Ser530Cys
XM_011535820.2:c.1589C>G XP_011534122.1:p.Ser530Cys
XM_017010851.2:c.1595C>G XP_016866340.1:p.Ser532Cys
XM_017010853.1:c.1589C>G XP_016866342.1:p.Ser530Cys
NM_000426.4:c.1589C>G MANE Select NP_000417.3:p.Ser530Cys
NM_001079823.2:c.1589C>G NP_001073291.2:p.Ser530Cys