Canonical Allele Identifier: CA273738
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 180591
ClinVar RCV Id: RCV000157587 RCV002469031 RCV002515056
dbSNP Id: rs730880252
MyVariant Identifiers: chr6:g.129204422T>C (hg19) chr6:g.128883277T>C (hg38)
PubMed: PMID:22675738
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.128883277T>C , CM000668.2:g.128883277T>C GRCh38
NC_000006.11:g.129204422T>C , CM000668.1:g.129204422T>C GRCh37
NC_000006.10:g.129246115T>C NCBI36
NG_008678.1:g.5137T>C , LRG_409:g.5137T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.32T>C ENSP00000481744.2:p.Leu11Pro
ENST00000618192.5:c.32T>C ENSP00000480802.2:p.Leu11Pro
ENST00000686577.1:n.98T>C
ENST00000686599.1:n.137T>C
ENST00000421865.3:c.32T>C MANE Select ENSP00000400365.2:p.Leu11Pro
ENST00000421865.2:c.32T>C ENSP00000400365.2:p.Leu11Pro
ENST00000617695.4:c.32T>C ENSP00000481744.1:p.Leu11Pro
ENST00000618192.4:c.32T>C ENSP00000480802.1:p.Leu11Pro
NM_000426.3:c.32T>C , LRG_409t1:c.32T>C NP_000417.2:p.Leu11Pro
NM_001079823.1:c.32T>C NP_001073291.1:p.Leu11Pro
XM_005266981.2:c.32T>C XP_005267038.1:p.Leu11Pro
XM_005266982.2:c.32T>C XP_005267039.1:p.Leu11Pro
XM_011535820.1:c.32T>C XP_011534122.1:p.Leu11Pro
XM_005266981.3:c.32T>C XP_005267038.1:p.Leu11Pro
XM_005266982.3:c.32T>C XP_005267039.1:p.Leu11Pro
XM_011535820.2:c.32T>C XP_011534122.1:p.Leu11Pro
XM_017010853.1:c.32T>C XP_016866342.1:p.Leu11Pro
NM_000426.4:c.32T>C MANE Select NP_000417.3:p.Leu11Pro
NM_001079823.2:c.32T>C NP_001073291.2:p.Leu11Pro
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