Canonical Allele Identifier: CA220762
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14290
ClinVar RCV Id: RCV000015360 RCV000790720 RCV000818341 RCV003225924
dbSNP Id: rs121913569
MyVariant Identifiers: chr6:g.129636783C>T (hg19) chr6:g.129315638C>T (hg38)
PubMed: PMID:7550355
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129315638C>T , CM000668.2:g.129315638C>T GRCh38
NC_000006.11:g.129636783C>T , CM000668.1:g.129636783C>T GRCh37
NC_000006.10:g.129678476C>T NCBI36
NG_008678.1:g.437498C>T , LRG_409:g.437498C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.3718C>T ENSP00000481744.2:p.Gln1240Ter
ENST00000618192.5:c.3982C>T ENSP00000480802.2:p.Gln1328Ter
ENST00000421865.3:c.3718C>T MANE Select ENSP00000400365.2:p.Gln1240Ter
ENST00000421865.2:c.3718C>T ENSP00000400365.2:p.Gln1240Ter
ENST00000617695.4:c.3718C>T ENSP00000481744.1:p.Gln1240Ter
ENST00000618192.4:c.3718C>T ENSP00000480802.1:p.Gln1240Ter
NM_000426.3:c.3718C>T , LRG_409t1:c.3718C>T NP_000417.2:p.Gln1240Ter
NM_001079823.1:c.3718C>T NP_001073291.1:p.Gln1240Ter
XM_005266981.2:c.3982C>T XP_005267038.1:p.Gln1328Ter
XM_005266982.2:c.3982C>T XP_005267039.1:p.Gln1328Ter
XM_011535820.1:c.3982C>T XP_011534122.1:p.Gln1328Ter
XM_005266981.3:c.3982C>T XP_005267038.1:p.Gln1328Ter
XM_005266982.3:c.3982C>T XP_005267039.1:p.Gln1328Ter
XM_011535820.2:c.3982C>T XP_011534122.1:p.Gln1328Ter
XM_017010851.2:c.3988C>T XP_016866340.1:p.Gln1330Ter
XM_017010852.1:c.2113C>T XP_016866341.1:p.Gln705Ter
XM_017010853.1:c.3982C>T XP_016866342.1:p.Gln1328Ter
NM_000426.4:c.3718C>T MANE Select NP_000417.3:p.Gln1240Ter
NM_001079823.2:c.3718C>T NP_001073291.2:p.Gln1240Ter
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