Canonical Allele Identifier: CA451934785
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.129486612C>A
GRCh37 chr6:g.129807757C>A
gnomAD v3:
6:129486612 C / A
gnomAD v4:
chr6-129486612-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004526397
ClinVar Variation:
3233547
dbSNP:
727502851
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129486612C>A , CM000668.2:g.129486612C>A GRCh38
NC_000006.11:g.129807757C>A , CM000668.1:g.129807757C>A GRCh37
NC_000006.10:g.129849450C>A NCBI36
NG_008678.1:g.608472C>A , LRG_409:g.608472C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7876C>A ENSP00000481744.2:p.Arg2626=
ENST00000618192.5:c.8152C>A ENSP00000480802.2:p.Arg2718=
ENST00000688198.1:n.866C>A
ENST00000421865.3:c.7888C>A MANE Select ENSP00000400365.2:p.Arg2630=
ENST00000421865.2:c.7888C>A ENSP00000400365.2:p.Arg2630=
ENST00000617695.4:c.7876C>A ENSP00000481744.1:p.Arg2626=
ENST00000618192.4:c.7885C>A ENSP00000480802.1:p.Arg2629=
NM_000426.3:c.7888C>A , LRG_409t1:c.7888C>A NP_000417.2:p.Arg2630=
NM_001079823.1:c.7876C>A NP_001073291.1:p.Arg2626=
XM_005266981.2:c.8152C>A XP_005267038.1:p.Arg2718=
XM_005266982.2:c.8140C>A XP_005267039.1:p.Arg2714=
XM_011535820.1:c.8146C>A XP_011534122.1:p.Arg2716=
XM_005266981.3:c.8152C>A XP_005267038.1:p.Arg2718=
XM_005266982.3:c.8140C>A XP_005267039.1:p.Arg2714=
XM_011535820.2:c.8146C>A XP_011534122.1:p.Arg2716=
XM_017010851.2:c.8158C>A XP_016866340.1:p.Arg2720=
XM_017010852.1:c.6283C>A XP_016866341.1:p.Arg2095=
NM_000426.4:c.7888C>A MANE Select NP_000417.3:p.Arg2630=
NM_001079823.2:c.7876C>A NP_001073291.2:p.Arg2626=
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