Canonical Allele Identifier: CA3993064
Gene: LAMA2 HGNC NCBI
COSMIC:
COSM5435380 (not active)
MyVariant.info:
GRCh38 chr6:g.129291631G>A
GRCh37 chr6:g.129612776G>A
Revel Score:
ENST00000358023 0.110
ENST00000354729 0.110
ENST00000421865 (MANE Select) 0.110
gnomAD v2:
6:129612776 G / A
gnomAD v3:
6:129291631 G / A
gnomAD v4:
chr6-129291631-G-A
Joint Max Group AF 0.00025366 (AFR)
Genomes Max Group AF 0.00024088 (AFR)
Exomes Max Group AF 0.00018342 (AFR)
ClinVar RCV:
RCV000519809
RCV000702908
ClinVar Variation:
450118
dbSNP:
144492513
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129291631G>A , CM000668.2:g.129291631G>A GRCh38
NC_000006.11:g.129612776G>A , CM000668.1:g.129612776G>A GRCh37
NC_000006.10:g.129654469G>A NCBI36
NG_008678.1:g.413491G>A , LRG_409:g.413491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.2767G>A ENSP00000481744.2:p.Gly923Ser
ENST00000618192.5:c.2767G>A ENSP00000480802.2:p.Gly923Ser
ENST00000421865.3:c.2767G>A MANE Select ENSP00000400365.2:p.Gly923Ser
ENST00000645154.1:c.18G>A
ENST00000421865.2:c.2767G>A ENSP00000400365.2:p.Gly923Ser
ENST00000617695.4:c.2767G>A ENSP00000481744.1:p.Gly923Ser
ENST00000618192.4:c.2767G>A ENSP00000480802.1:p.Gly923Ser
NM_000426.3:c.2767G>A , LRG_409t1:c.2767G>A NP_000417.2:p.Gly923Ser
NM_001079823.1:c.2767G>A NP_001073291.1:p.Gly923Ser
XM_005266981.2:c.2767G>A XP_005267038.1:p.Gly923Ser
XM_005266982.2:c.2767G>A XP_005267039.1:p.Gly923Ser
XM_011535820.1:c.2767G>A XP_011534122.1:p.Gly923Ser
XM_005266981.3:c.2767G>A XP_005267038.1:p.Gly923Ser
XM_005266982.3:c.2767G>A XP_005267039.1:p.Gly923Ser
XM_011535820.2:c.2767G>A XP_011534122.1:p.Gly923Ser
XM_017010851.2:c.2773G>A XP_016866340.1:p.Gly925Ser
XM_017010852.1:c.898G>A XP_016866341.1:p.Gly300Ser
XM_017010853.1:c.2767G>A XP_016866342.1:p.Gly923Ser
NM_000426.4:c.2767G>A MANE Select NP_000417.3:p.Gly923Ser
NM_001079823.2:c.2767G>A NP_001073291.2:p.Gly923Ser
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