Canonical Allele Identifier: CA365622092

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2099320
• ClinVar RCV Id: RCV003022939
• gnomAD v4: 6-129465254-G-A
• MyVariant Identifiers: chr6:g.129786399G>A (hg19) ; chr6:g.129465254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465254G>A , CM000668.2:g.129465254G>A	GRCh38
NC_000006.11:g.129786399G>A , CM000668.1:g.129786399G>A	GRCh37
NC_000006.10:g.129828092G>A	NCBI36
NG_008678.1:g.587114G>A , LRG_409:g.587114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7265G>A	ENSP00000481744.2:p.Trp2422Ter
ENST00000618192.5:c.7529G>A	ENSP00000480802.2:p.Trp2510Ter
ENST00000684985.1:n.896G>A
ENST00000421865.3:c.7265G>A MANE Select	ENSP00000400365.2:p.Trp2422Ter
ENST00000421865.2:c.7265G>A	ENSP00000400365.2:p.Trp2422Ter
ENST00000617695.4:c.7265G>A	ENSP00000481744.1:p.Trp2422Ter
ENST00000618192.4:c.7262G>A	ENSP00000480802.1:p.Trp2421Ter
NM_000426.3:c.7265G>A , LRG_409t1:c.7265G>A	NP_000417.2:p.Trp2422Ter
NM_001079823.1:c.7265G>A	NP_001073291.1:p.Trp2422Ter
XM_005266981.2:c.7529G>A	XP_005267038.1:p.Trp2510Ter
XM_005266982.2:c.7529G>A	XP_005267039.1:p.Trp2510Ter
XM_011535820.1:c.7523G>A	XP_011534122.1:p.Trp2508Ter
XM_005266981.3:c.7529G>A	XP_005267038.1:p.Trp2510Ter
XM_005266982.3:c.7529G>A	XP_005267039.1:p.Trp2510Ter
XM_011535820.2:c.7523G>A	XP_011534122.1:p.Trp2508Ter
XM_017010851.2:c.7535G>A	XP_016866340.1:p.Trp2512Ter
XM_017010852.1:c.5660G>A	XP_016866341.1:p.Trp1887Ter
NM_000426.4:c.7265G>A MANE Select	NP_000417.3:p.Trp2422Ter
NM_001079823.2:c.7265G>A	NP_001073291.2:p.Trp2422Ter