Canonical Allele Identifier: CA3994617
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.129481294G>A
GRCh37 chr6:g.129802439G>A
Revel Score:
ENST00000358023 0.939
ENST00000354729 0.939
ENST00000421865 (MANE Select) 0.939
ENST00000443169 0.939
gnomAD v2:
6:129802439 G / A
gnomAD v3:
6:129481294 G / A
gnomAD v4:
chr6-129481294-G-A
Joint Max Group AF 0.00003235 (AMR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV000654736
RCV003129975
ClinVar Variation:
543859
dbSNP:
374210667
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481294G>A , CM000668.2:g.129481294G>A GRCh38
NC_000006.11:g.129802439G>A , CM000668.1:g.129802439G>A GRCh37
NC_000006.10:g.129844132G>A NCBI36
NG_008678.1:g.603154G>A , LRG_409:g.603154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7592G>A ENSP00000481744.2:p.Gly2531Asp
ENST00000618192.5:c.7868G>A ENSP00000480802.2:p.Gly2623Asp
ENST00000421865.3:c.7604G>A MANE Select ENSP00000400365.2:p.Gly2535Asp
ENST00000421865.2:c.7604G>A ENSP00000400365.2:p.Gly2535Asp
ENST00000617695.4:c.7592G>A ENSP00000481744.1:p.Gly2531Asp
ENST00000618192.4:c.7601G>A ENSP00000480802.1:p.Gly2534Asp
NM_000426.3:c.7604G>A , LRG_409t1:c.7604G>A NP_000417.2:p.Gly2535Asp
NM_001079823.1:c.7592G>A NP_001073291.1:p.Gly2531Asp
XM_005266981.2:c.7868G>A XP_005267038.1:p.Gly2623Asp
XM_005266982.2:c.7856G>A XP_005267039.1:p.Gly2619Asp
XM_011535820.1:c.7862G>A XP_011534122.1:p.Gly2621Asp
XM_005266981.3:c.7868G>A XP_005267038.1:p.Gly2623Asp
XM_005266982.3:c.7856G>A XP_005267039.1:p.Gly2619Asp
XM_011535820.2:c.7862G>A XP_011534122.1:p.Gly2621Asp
XM_017010851.2:c.7874G>A XP_016866340.1:p.Gly2625Asp
XM_017010852.1:c.5999G>A XP_016866341.1:p.Gly2000Asp
NM_000426.4:c.7604G>A MANE Select NP_000417.3:p.Gly2535Asp
NM_001079823.2:c.7592G>A NP_001073291.2:p.Gly2531Asp
Search 100 bp 5'
Search 100 bp 3'