Canonical Allele Identifier: CA16618239
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421149
ClinVar RCV Id: RCV000484636
dbSNP Id: rs1064794941
MyVariant Identifiers: chr6:g.129511381G>A (hg19) chr6:g.129190236G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129190236G>A , CM000668.2:g.129190236G>A GRCh38
NC_000006.11:g.129511381G>A , CM000668.1:g.129511381G>A GRCh37
NC_000006.10:g.129553074G>A NCBI36
NG_008678.1:g.312096G>A , LRG_409:g.312096G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.1499G>A ENSP00000481744.2:p.Cys500Tyr
ENST00000618192.5:c.1499G>A ENSP00000480802.2:p.Cys500Tyr
ENST00000686599.1:n.1604G>A
ENST00000690881.1:n.962G>A
ENST00000421865.3:c.1499G>A MANE Select ENSP00000400365.2:p.Cys500Tyr
ENST00000421865.2:c.1499G>A ENSP00000400365.2:p.Cys500Tyr
ENST00000617695.4:c.1499G>A ENSP00000481744.1:p.Cys500Tyr
ENST00000618192.4:c.1499G>A ENSP00000480802.1:p.Cys500Tyr
NM_000426.3:c.1499G>A , LRG_409t1:c.1499G>A NP_000417.2:p.Cys500Tyr
NM_001079823.1:c.1499G>A NP_001073291.1:p.Cys500Tyr
XM_005266981.2:c.1499G>A XP_005267038.1:p.Cys500Tyr
XM_005266982.2:c.1499G>A XP_005267039.1:p.Cys500Tyr
XM_011535820.1:c.1499G>A XP_011534122.1:p.Cys500Tyr
XM_005266981.3:c.1499G>A XP_005267038.1:p.Cys500Tyr
XM_005266982.3:c.1499G>A XP_005267039.1:p.Cys500Tyr
XM_011535820.2:c.1499G>A XP_011534122.1:p.Cys500Tyr
XM_017010851.2:c.1505G>A XP_016866340.1:p.Cys502Tyr
XM_017010853.1:c.1499G>A XP_016866342.1:p.Cys500Tyr
NM_000426.4:c.1499G>A MANE Select NP_000417.3:p.Cys500Tyr
NM_001079823.2:c.1499G>A NP_001073291.2:p.Cys500Tyr
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