Canonical Allele Identifier: CA234195
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.129098399C>A
GRCh37 chr6:g.129419544C>A
Revel Score:
ENST00000358023 0.880
ENST00000354729 0.880
ENST00000421865 (MANE Select) 0.880
gnomAD v2:
6:129419544 C / A
gnomAD v3:
6:129098399 C / A
gnomAD v4:
chr6-129098399-C-A
Joint Max Group AF 0.00057558 (AMR)
Genomes Max Group AF 0.00030675 (AMR)
Exomes Max Group AF 0.00059774 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129098399C>A , CM000668.2:g.129098399C>A GRCh38
NC_000006.11:g.129419544C>A , CM000668.1:g.129419544C>A GRCh37
NC_000006.10:g.129461237C>A NCBI36
NG_008678.1:g.220259C>A , LRG_409:g.220259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.623C>A ENSP00000481744.2:p.Pro208His
ENST00000618192.5:c.623C>A ENSP00000480802.2:p.Pro208His
ENST00000686577.1:n.689C>A
ENST00000686599.1:n.728C>A
ENST00000689044.1:n.513C>A
ENST00000690881.1:n.86C>A
ENST00000421865.3:c.623C>A MANE Select ENSP00000400365.2:p.Pro208His
ENST00000421865.2:c.623C>A ENSP00000400365.2:p.Pro208His
ENST00000617695.4:c.623C>A ENSP00000481744.1:p.Pro208His
ENST00000618192.4:c.623C>A ENSP00000480802.1:p.Pro208His
NM_000426.3:c.623C>A , LRG_409t1:c.623C>A NP_000417.2:p.Pro208His
NM_001079823.1:c.623C>A NP_001073291.1:p.Pro208His
XM_005266981.2:c.623C>A XP_005267038.1:p.Pro208His
XM_005266982.2:c.623C>A XP_005267039.1:p.Pro208His
XM_011535820.1:c.623C>A XP_011534122.1:p.Pro208His
XM_005266981.3:c.623C>A XP_005267038.1:p.Pro208His
XM_005266982.3:c.623C>A XP_005267039.1:p.Pro208His
XM_011535820.2:c.623C>A XP_011534122.1:p.Pro208His
XM_017010851.2:c.629C>A XP_016866340.1:p.Pro210His
XM_017010853.1:c.623C>A XP_016866342.1:p.Pro208His
NM_000426.4:c.623C>A MANE Select NP_000417.3:p.Pro208His
NM_001079823.2:c.623C>A NP_001073291.2:p.Pro208His
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