Canonical Allele Identifier: CA365621569

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129465183-A-G
• MyVariant Identifiers: chr6:g.129786328A>G (hg19) ; chr6:g.129465183A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465183A>G , CM000668.2:g.129465183A>G	GRCh38
NC_000006.11:g.129786328A>G , CM000668.1:g.129786328A>G	GRCh37
NC_000006.10:g.129828021A>G	NCBI36
NG_008678.1:g.587043A>G , LRG_409:g.587043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7194A>G	ENSP00000481744.2:p.Ile2398Met
ENST00000618192.5:c.7458A>G	ENSP00000480802.2:p.Ile2486Met
ENST00000684985.1:n.825A>G
ENST00000688150.1:n.533A>G
ENST00000421865.3:c.7194A>G MANE Select	ENSP00000400365.2:p.Ile2398Met
ENST00000421865.2:c.7194A>G	ENSP00000400365.2:p.Ile2398Met
ENST00000617695.4:c.7194A>G	ENSP00000481744.1:p.Ile2398Met
ENST00000618192.4:c.7191A>G	ENSP00000480802.1:p.Ile2397Met
NM_000426.3:c.7194A>G , LRG_409t1:c.7194A>G	NP_000417.2:p.Ile2398Met
NM_001079823.1:c.7194A>G	NP_001073291.1:p.Ile2398Met
XM_005266981.2:c.7458A>G	XP_005267038.1:p.Ile2486Met
XM_005266982.2:c.7458A>G	XP_005267039.1:p.Ile2486Met
XM_011535820.1:c.7452A>G	XP_011534122.1:p.Ile2484Met
XM_005266981.3:c.7458A>G	XP_005267038.1:p.Ile2486Met
XM_005266982.3:c.7458A>G	XP_005267039.1:p.Ile2486Met
XM_011535820.2:c.7452A>G	XP_011534122.1:p.Ile2484Met
XM_017010851.2:c.7464A>G	XP_016866340.1:p.Ile2488Met
XM_017010852.1:c.5589A>G	XP_016866341.1:p.Ile1863Met
NM_000426.4:c.7194A>G MANE Select	NP_000417.3:p.Ile2398Met
NM_001079823.2:c.7194A>G	NP_001073291.2:p.Ile2398Met