Canonical Allele Identifier: CA365622074

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 936443
• ClinVar RCV Id: RCV001205241
• dbSNP Id: rs1783482632
• MyVariant Identifiers: chr6:g.129786396A>G (hg19) ; chr6:g.129465251A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465251A>G , CM000668.2:g.129465251A>G	GRCh38
NC_000006.11:g.129786396A>G , CM000668.1:g.129786396A>G	GRCh37
NC_000006.10:g.129828089A>G	NCBI36
NG_008678.1:g.587111A>G , LRG_409:g.587111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7262A>G	ENSP00000481744.2:p.Lys2421Arg
ENST00000618192.5:c.7526A>G	ENSP00000480802.2:p.Lys2509Arg
ENST00000684985.1:n.893A>G
ENST00000421865.3:c.7262A>G MANE Select	ENSP00000400365.2:p.Lys2421Arg
ENST00000421865.2:c.7262A>G	ENSP00000400365.2:p.Lys2421Arg
ENST00000617695.4:c.7262A>G	ENSP00000481744.1:p.Lys2421Arg
ENST00000618192.4:c.7259A>G	ENSP00000480802.1:p.Lys2420Arg
NM_000426.3:c.7262A>G , LRG_409t1:c.7262A>G	NP_000417.2:p.Lys2421Arg
NM_001079823.1:c.7262A>G	NP_001073291.1:p.Lys2421Arg
XM_005266981.2:c.7526A>G	XP_005267038.1:p.Lys2509Arg
XM_005266982.2:c.7526A>G	XP_005267039.1:p.Lys2509Arg
XM_011535820.1:c.7520A>G	XP_011534122.1:p.Lys2507Arg
XM_005266981.3:c.7526A>G	XP_005267038.1:p.Lys2509Arg
XM_005266982.3:c.7526A>G	XP_005267039.1:p.Lys2509Arg
XM_011535820.2:c.7520A>G	XP_011534122.1:p.Lys2507Arg
XM_017010851.2:c.7532A>G	XP_016866340.1:p.Lys2511Arg
XM_017010852.1:c.5657A>G	XP_016866341.1:p.Lys1886Arg
NM_000426.4:c.7262A>G MANE Select	NP_000417.3:p.Lys2421Arg
NM_001079823.2:c.7262A>G	NP_001073291.2:p.Lys2421Arg