Canonical Allele Identifier: CA365612631

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1481206
• ClinVar RCV Id: RCV002000491
• dbSNP Id: rs1305192006
• gnomAD v3: 6-129315492-A-G
• gnomAD v4: 6-129315492-A-G
• MyVariant Identifiers: chr6:g.129636637A>G (hg19) ; chr6:g.129315492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315492A>G , CM000668.2:g.129315492A>G	GRCh38
NC_000006.11:g.129636637A>G , CM000668.1:g.129636637A>G	GRCh37
NC_000006.10:g.129678330A>G	NCBI36
NG_008678.1:g.437352A>G , LRG_409:g.437352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3572A>G	ENSP00000481744.2:p.Glu1191Gly
ENST00000618192.5:c.3836A>G	ENSP00000480802.2:p.Glu1279Gly
ENST00000421865.3:c.3572A>G MANE Select	ENSP00000400365.2:p.Glu1191Gly
ENST00000421865.2:c.3572A>G	ENSP00000400365.2:p.Glu1191Gly
ENST00000617695.4:c.3572A>G	ENSP00000481744.1:p.Glu1191Gly
ENST00000618192.4:c.3572A>G	ENSP00000480802.1:p.Glu1191Gly
NM_000426.3:c.3572A>G , LRG_409t1:c.3572A>G	NP_000417.2:p.Glu1191Gly
NM_001079823.1:c.3572A>G	NP_001073291.1:p.Glu1191Gly
XM_005266981.2:c.3836A>G	XP_005267038.1:p.Glu1279Gly
XM_005266982.2:c.3836A>G	XP_005267039.1:p.Glu1279Gly
XM_011535820.1:c.3836A>G	XP_011534122.1:p.Glu1279Gly
XM_005266981.3:c.3836A>G	XP_005267038.1:p.Glu1279Gly
XM_005266982.3:c.3836A>G	XP_005267039.1:p.Glu1279Gly
XM_011535820.2:c.3836A>G	XP_011534122.1:p.Glu1279Gly
XM_017010851.2:c.3842A>G	XP_016866340.1:p.Glu1281Gly
XM_017010852.1:c.1967A>G	XP_016866341.1:p.Glu656Gly
XM_017010853.1:c.3836A>G	XP_016866342.1:p.Glu1279Gly
NM_000426.4:c.3572A>G MANE Select	NP_000417.3:p.Glu1191Gly
NM_001079823.2:c.3572A>G	NP_001073291.2:p.Glu1191Gly