Canonical Allele Identifier: CA146880637

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 507122
• ClinVar RCV Id: RCV000607151 ; RCV000626686 ; RCV002529411
• dbSNP Id: rs1024374408
• gnomAD v4: 6-129270767-A-G
• MyVariant Identifiers: chr6:g.129591912A>G (hg19) ; chr6:g.129270767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129270767A>G , CM000668.2:g.129270767A>G	GRCh38
NC_000006.11:g.129591912A>G , CM000668.1:g.129591912A>G	GRCh37
NC_000006.10:g.129633605A>G	NCBI36
NG_008678.1:g.392627A>G , LRG_409:g.392627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2450+16A>G	ENSP00000481744.2:n.2450+16A>G
ENST00000618192.5:c.2450+16A>G	ENSP00000480802.2:n.2450+16A>G
ENST00000421865.3:c.2450+16A>G MANE Select	ENSP00000400365.2:n.2450+16A>G
ENST00000421865.2:c.2450+16A>G	ENSP00000400365.2:n.2450+16A>G
ENST00000617695.4:c.2450+16A>G	ENSP00000481744.1:n.2450+16A>G
ENST00000618192.4:c.2450+16A>G	ENSP00000480802.1:n.2450+16A>G
NM_000426.3:c.2450+16A>G , LRG_409t1:c.2450+16A>G	NP_000417.2:n.2450+16A>G
NM_001079823.1:c.2450+16A>G	NP_001073291.1:n.2450+16A>G
XM_005266981.2:c.2450+16A>G	XP_005267038.1:n.2450+16A>G
XM_005266982.2:c.2450+16A>G	XP_005267039.1:n.2450+16A>G
XM_011535820.1:c.2450+16A>G	XP_011534122.1:n.2450+16A>G
XM_005266981.3:c.2450+16A>G	XP_005267038.1:n.2450+16A>G
XM_005266982.3:c.2450+16A>G	XP_005267039.1:n.2450+16A>G
XM_011535820.2:c.2450+16A>G	XP_011534122.1:n.2450+16A>G
XM_017010851.2:c.2456+16A>G	XP_016866340.1:n.2456+16A>G
XM_017010852.1:c.581+16A>G	XP_016866341.1:n.581+16A>G
XM_017010853.1:c.2450+16A>G	XP_016866342.1:n.2450+16A>G
NM_000426.4:c.2450+16A>G MANE Select	NP_000417.3:n.2450+16A>G
NM_001079823.2:c.2450+16A>G	NP_001073291.2:n.2450+16A>G