Canonical Allele Identifier: CA365622178

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 550126
• ClinVar RCV Id: RCV000664773
• dbSNP Id: rs1350705904
• gnomAD v2: 6-129786417-CAAG-C
• gnomAD v3: 6-129465272-CAAG-C
• gnomAD v4: 6-129465272-CAAG-C
• MyVariant Identifiers: chr6:g.129786418_129786420del (hg19) ; chr6:g.129465275_129465277del (hg38) ; chr6:g.129465274_129465276del (hg38) ; chr6:g.129465273_129465275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465275_129465277del , CM000668.2:g.129465275_129465277del	GRCh38
NC_000006.11:g.129786420_129786422del , CM000668.1:g.129786420_129786422del	GRCh37
NC_000006.10:g.129828113_129828115del	NCBI36
NG_008678.1:g.587135_587137del , LRG_409:g.587135_587137del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.7286_7288del	ENSP00000481744.2:p.Arg2429del
ENST00000618192.5:c.7550_7552del	ENSP00000480802.2:p.Arg2517del
ENST00000684985.1:n.917_919del
ENST00000421865.3:c.7286_7288del MANE Select	ENSP00000400365.2:p.Arg2429del
ENST00000421865.2:c.7286_7288del	ENSP00000400365.2:p.Arg2429del
ENST00000617695.4:c.7286_7288del	ENSP00000481744.1:p.Arg2429del
ENST00000618192.4:c.7283_7285del	ENSP00000480802.1:p.Arg2428del
NM_000426.3:c.7286_7288del , LRG_409t1:c.7286_7288del	NP_000417.2:p.Arg2429del
NM_001079823.1:c.7286_7288del	NP_001073291.1:p.Arg2429del
XM_005266981.2:c.7550_7552del	XP_005267038.1:p.Arg2517del
XM_005266982.2:c.7550_7552del	XP_005267039.1:p.Arg2517del
XM_011535820.1:c.7544_7546del	XP_011534122.1:p.Arg2515del
XM_005266981.3:c.7550_7552del	XP_005267038.1:p.Arg2517del
XM_005266982.3:c.7550_7552del	XP_005267039.1:p.Arg2517del
XM_011535820.2:c.7544_7546del	XP_011534122.1:p.Arg2515del
XM_017010851.2:c.7556_7558del	XP_016866340.1:p.Arg2519del
XM_017010852.1:c.5681_5683del	XP_016866341.1:p.Arg1894del
NM_000426.4:c.7286_7288del MANE Select	NP_000417.3:p.Arg2429del
NM_001079823.2:c.7286_7288del	NP_001073291.2:p.Arg2429del