Canonical Allele Identifier: CA3993954
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.129402450G>A
GRCh37 chr6:g.129723595G>A
Revel Score:
ENST00000358023 0.417
ENST00000354729 0.417
ENST00000421865 (MANE Select) 0.417
gnomAD v2:
6:129723595 G / A
gnomAD v3:
6:129402450 G / A
gnomAD v4:
chr6-129402450-G-A
Joint Max Group AF 0.00007325 (NFE)
Genomes Max Group AF 0.00011228 (NFE)
Exomes Max Group AF 0.00006696 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129402450G>A , CM000668.2:g.129402450G>A GRCh38
NC_000006.11:g.129723595G>A , CM000668.1:g.129723595G>A GRCh37
NC_000006.10:g.129765288G>A NCBI36
NG_008678.1:g.524310G>A , LRG_409:g.524310G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.5689G>A ENSP00000481744.2:p.Ala1897Thr
ENST00000618192.5:c.5953G>A ENSP00000480802.2:p.Ala1985Thr
ENST00000421865.3:c.5689G>A MANE Select ENSP00000400365.2:p.Ala1897Thr
ENST00000421865.2:c.5689G>A ENSP00000400365.2:p.Ala1897Thr
ENST00000617695.4:c.5689G>A ENSP00000481744.1:p.Ala1897Thr
ENST00000618192.4:c.5689G>A ENSP00000480802.1:p.Ala1897Thr
NM_000426.3:c.5689G>A , LRG_409t1:c.5689G>A NP_000417.2:p.Ala1897Thr
NM_001079823.1:c.5689G>A NP_001073291.1:p.Ala1897Thr
XM_005266981.2:c.5953G>A XP_005267038.1:p.Ala1985Thr
XM_005266982.2:c.5953G>A XP_005267039.1:p.Ala1985Thr
XM_011535820.1:c.5953G>A XP_011534122.1:p.Ala1985Thr
XM_005266981.3:c.5953G>A XP_005267038.1:p.Ala1985Thr
XM_005266982.3:c.5953G>A XP_005267039.1:p.Ala1985Thr
XM_011535820.2:c.5953G>A XP_011534122.1:p.Ala1985Thr
XM_017010851.2:c.5959G>A XP_016866340.1:p.Ala1987Thr
XM_017010852.1:c.4084G>A XP_016866341.1:p.Ala1362Thr
NM_000426.4:c.5689G>A MANE Select NP_000417.3:p.Ala1897Thr
NM_001079823.2:c.5689G>A NP_001073291.2:p.Ala1897Thr
Search 100 bp 5'
Search 100 bp 3'