Canonical Allele Identifier: CA146888586

Gene: LAMA2

Linked Data

• dbSNP Id: rs774181390
• gnomAD v4: 6-129460281-A-G
• MyVariant Identifiers: chr6:g.129781426A>G (hg19) ; chr6:g.129460281A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460281A>G , CM000668.2:g.129460281A>G	GRCh38
NC_000006.11:g.129781426A>G , CM000668.1:g.129781426A>G	GRCh37
NC_000006.10:g.129823119A>G	NCBI36
NG_008678.1:g.582141A>G , LRG_409:g.582141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6949A>G	ENSP00000481744.2:p.Asn2317Asp
ENST00000618192.5:c.7213A>G	ENSP00000480802.2:p.Asn2405Asp
ENST00000684985.1:n.580A>G
ENST00000688150.1:n.288A>G
ENST00000421865.3:c.6949A>G MANE Select	ENSP00000400365.2:p.Asn2317Asp
ENST00000421865.2:c.6949A>G	ENSP00000400365.2:p.Asn2317Asp
ENST00000617695.4:c.6949A>G	ENSP00000481744.1:p.Asn2317Asp
ENST00000618192.4:c.6946A>G	ENSP00000480802.1:p.Asn2316Asp
NM_000426.3:c.6949A>G , LRG_409t1:c.6949A>G	NP_000417.2:p.Asn2317Asp
NM_001079823.1:c.6949A>G	NP_001073291.1:p.Asn2317Asp
XM_005266981.2:c.7213A>G	XP_005267038.1:p.Asn2405Asp
XM_005266982.2:c.7213A>G	XP_005267039.1:p.Asn2405Asp
XM_011535820.1:c.7207A>G	XP_011534122.1:p.Asn2403Asp
XM_005266981.3:c.7213A>G	XP_005267038.1:p.Asn2405Asp
XM_005266982.3:c.7213A>G	XP_005267039.1:p.Asn2405Asp
XM_011535820.2:c.7207A>G	XP_011534122.1:p.Asn2403Asp
XM_017010851.2:c.7219A>G	XP_016866340.1:p.Asn2407Asp
XM_017010852.1:c.5344A>G	XP_016866341.1:p.Asn1782Asp
NM_000426.4:c.6949A>G MANE Select	NP_000417.3:p.Asn2317Asp
NM_001079823.2:c.6949A>G	NP_001073291.2:p.Asn2317Asp