Canonical Allele Identifier: CA234201

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 167242
• ClinVar RCV Id: RCV000591983 ; RCV000790714 ; RCV000798417
• dbSNP Id: rs727503992
• ExAC: 6:129636684 ACCAAGGGCATTGTTTTTCAACAT / A
• gnomAD v2: 6-129636684-ACCAAGGGCATTGTTTTTCAACAT-A
• gnomAD v3: 6-129315539-ACCAAGGGCATTGTTTTTCAACAT-A
• gnomAD v4: 6-129315539-ACCAAGGGCATTGTTTTTCAACAT-A
• MyVariant Identifiers: chr6:g.129636688_129636710del (hg19) ; chr6:g.129636685_129636707del (hg19) ; chr6:g.129636688_129636710delAGGGCATTGTTTTTCAACATCCA (hg19) ; chr6:g.129315543_129315565del (hg38) ; chr6:g.129315540_129315562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315543_129315565del , CM000668.2:g.129315543_129315565del	GRCh38
NC_000006.11:g.129636688_129636710del , CM000668.1:g.129636688_129636710del	GRCh37
NC_000006.10:g.129678381_129678403del	NCBI36
NG_008678.1:g.437403_437425del , LRG_409:g.437403_437425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3623_3645del	ENSP00000481744.2:p.Lys1208ArgfsTer27
ENST00000618192.5:c.3887_3909del	ENSP00000480802.2:p.Lys1296ArgfsTer27
ENST00000421865.3:c.3623_3645del MANE Select	ENSP00000400365.2:p.Lys1208ArgfsTer27
ENST00000421865.2:c.3623_3645del	ENSP00000400365.2:p.Lys1208ArgfsTer27
ENST00000617695.4:c.3623_3645del	ENSP00000481744.1:p.Lys1208ArgfsTer27
ENST00000618192.4:c.3623_3645del	ENSP00000480802.1:p.Lys1208ArgfsTer27
NM_000426.3:c.3623_3645del , LRG_409t1:c.3623_3645del	NP_000417.2:p.Lys1208ArgfsTer27
NM_001079823.1:c.3623_3645del	NP_001073291.1:p.Lys1208ArgfsTer27
XM_005266981.2:c.3887_3909del	XP_005267038.1:p.Lys1296ArgfsTer27
XM_005266982.2:c.3887_3909del	XP_005267039.1:p.Lys1296ArgfsTer27
XM_011535820.1:c.3887_3909del	XP_011534122.1:p.Lys1296ArgfsTer27
XM_005266981.3:c.3887_3909del	XP_005267038.1:p.Lys1296ArgfsTer27
XM_005266982.3:c.3887_3909del	XP_005267039.1:p.Lys1296ArgfsTer27
XM_011535820.2:c.3887_3909del	XP_011534122.1:p.Lys1296ArgfsTer27
XM_017010851.2:c.3893_3915del	XP_016866340.1:p.Lys1298ArgfsTer27
XM_017010852.1:c.2018_2040del	XP_016866341.1:p.Lys673ArgfsTer27
XM_017010853.1:c.3887_3909del	XP_016866342.1:p.Lys1296ArgfsTer27
NM_000426.4:c.3623_3645del MANE Select	NP_000417.3:p.Lys1208ArgfsTer27
NM_001079823.2:c.3623_3645del	NP_001073291.2:p.Lys1208ArgfsTer27