Canonical Allele Identifier: CA365608097

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 566216
• ClinVar RCV Id: RCV000685970
• dbSNP Id: rs1562316296
• MyVariant Identifiers: chr6:g.129513829A>G (hg19) ; chr6:g.129192684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129192684A>G , CM000668.2:g.129192684A>G	GRCh38
NC_000006.11:g.129513829A>G , CM000668.1:g.129513829A>G	GRCh37
NC_000006.10:g.129555522A>G	NCBI36
NG_008678.1:g.314544A>G , LRG_409:g.314544A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.1613A>G	ENSP00000481744.2:p.Gln538Arg
ENST00000618192.5:c.1613A>G	ENSP00000480802.2:p.Gln538Arg
ENST00000686599.1:n.1718A>G
ENST00000690881.1:n.1076A>G
ENST00000421865.3:c.1613A>G MANE Select	ENSP00000400365.2:p.Gln538Arg
ENST00000421865.2:c.1613A>G	ENSP00000400365.2:p.Gln538Arg
ENST00000617695.4:c.1613A>G	ENSP00000481744.1:p.Gln538Arg
ENST00000618192.4:c.1613A>G	ENSP00000480802.1:p.Gln538Arg
NM_000426.3:c.1613A>G , LRG_409t1:c.1613A>G	NP_000417.2:p.Gln538Arg
NM_001079823.1:c.1613A>G	NP_001073291.1:p.Gln538Arg
XM_005266981.2:c.1613A>G	XP_005267038.1:p.Gln538Arg
XM_005266982.2:c.1613A>G	XP_005267039.1:p.Gln538Arg
XM_011535820.1:c.1613A>G	XP_011534122.1:p.Gln538Arg
XM_005266981.3:c.1613A>G	XP_005267038.1:p.Gln538Arg
XM_005266982.3:c.1613A>G	XP_005267039.1:p.Gln538Arg
XM_011535820.2:c.1613A>G	XP_011534122.1:p.Gln538Arg
XM_017010851.2:c.1619A>G	XP_016866340.1:p.Gln540Arg
XM_017010853.1:c.1613A>G	XP_016866342.1:p.Gln538Arg
NM_000426.4:c.1613A>G MANE Select	NP_000417.3:p.Gln538Arg
NM_001079823.2:c.1613A>G	NP_001073291.2:p.Gln538Arg