Canonical Allele Identifier: CA220770

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 92961
• ClinVar RCV Id: RCV000177512 ; RCV001203362
• dbSNP Id: rs398123375
• gnomAD v3: 6-129349385-G-A
• gnomAD v4: 6-129349385-G-A
• MyVariant Identifiers: chr6:g.129670530G>A (hg19) ; chr6:g.129349385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349385G>A , CM000668.2:g.129349385G>A	GRCh38
NC_000006.11:g.129670530G>A , CM000668.1:g.129670530G>A	GRCh37
NC_000006.10:g.129712223G>A	NCBI36
NG_008678.1:g.471245G>A , LRG_409:g.471245G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4523+1G>A	ENSP00000481744.2:n.4523+1G>A
ENST00000618192.5:c.4787+1G>A	ENSP00000480802.2:n.4787+1G>A
ENST00000692206.1:n.172+1G>A
ENST00000693425.1:n.49+1G>A
ENST00000421865.3:c.4523+1G>A MANE Select	ENSP00000400365.2:n.4523+1G>A
ENST00000421865.2:c.4523+1G>A	ENSP00000400365.2:n.4523+1G>A
ENST00000617695.4:c.4523+1G>A	ENSP00000481744.1:n.4523+1G>A
ENST00000618192.4:c.4523+1G>A	ENSP00000480802.1:n.4523+1G>A
NM_000426.3:c.4523+1G>A , LRG_409t1:c.4523+1G>A	NP_000417.2:n.4523+1G>A
NM_001079823.1:c.4523+1G>A	NP_001073291.1:n.4523+1G>A
XM_005266981.2:c.4787+1G>A	XP_005267038.1:n.4787+1G>A
XM_005266982.2:c.4787+1G>A	XP_005267039.1:n.4787+1G>A
XM_011535820.1:c.4787+1G>A	XP_011534122.1:n.4787+1G>A
XM_005266981.3:c.4787+1G>A	XP_005267038.1:n.4787+1G>A
XM_005266982.3:c.4787+1G>A	XP_005267039.1:n.4787+1G>A
XM_011535820.2:c.4787+1G>A	XP_011534122.1:n.4787+1G>A
XM_017010851.2:c.4793+1G>A	XP_016866340.1:n.4793+1G>A
XM_017010852.1:c.2918+1G>A	XP_016866341.1:n.2918+1G>A
XM_017010853.1:c.4787+1G>A	XP_016866342.1:n.4787+1G>A
NM_000426.4:c.4523+1G>A MANE Select	NP_000417.3:n.4523+1G>A
NM_001079823.2:c.4523+1G>A	NP_001073291.2:n.4523+1G>A