Canonical Allele Identifier: CA2573140487

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1603111
• ClinVar RCV Id: RCV002141791
• dbSNP Id: rs2114810047
• gnomAD v4: 6-129465293-A-AGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465294_129465296dup , CM000668.2:g.129465294_129465296dup	GRCh38
NC_000006.11:g.129786439_129786441dup , CM000668.1:g.129786439_129786441dup	GRCh37
NC_000006.10:g.129828132_129828134dup	NCBI36
NG_008678.1:g.587154_587156dup , LRG_409:g.587154_587156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7300+5_7300+7dup	ENSP00000481744.2:n.7300+5_7300+7dup
ENST00000618192.5:c.7564+5_7564+7dup	ENSP00000480802.2:n.7564+5_7564+7dup
ENST00000684985.1:n.931+5_931+7dup
ENST00000421865.3:c.7300+5_7300+7dup MANE Select	ENSP00000400365.2:n.7300+5_7300+7dup
ENST00000421865.2:c.7300+5_7300+7dup	ENSP00000400365.2:n.7300+5_7300+7dup
ENST00000617695.4:c.7300+5_7300+7dup	ENSP00000481744.1:n.7300+5_7300+7dup
ENST00000618192.4:c.7297+5_7297+7dup	ENSP00000480802.1:n.7297+5_7297+7dup
NM_000426.3:c.7300+5_7300+7dup , LRG_409t1:c.7300+5_7300+7dup	NP_000417.2:n.7300+5_7300+7dup
NM_001079823.1:c.7300+5_7300+7dup	NP_001073291.1:n.7300+5_7300+7dup
XM_005266981.2:c.7564+5_7564+7dup	XP_005267038.1:n.7564+5_7564+7dup
XM_005266982.2:c.7564+5_7564+7dup	XP_005267039.1:n.7564+5_7564+7dup
XM_011535820.1:c.7558+5_7558+7dup	XP_011534122.1:n.7558+5_7558+7dup
XM_005266981.3:c.7564+5_7564+7dup	XP_005267038.1:n.7564+5_7564+7dup
XM_005266982.3:c.7564+5_7564+7dup	XP_005267039.1:n.7564+5_7564+7dup
XM_011535820.2:c.7558+5_7558+7dup	XP_011534122.1:n.7558+5_7558+7dup
XM_017010851.2:c.7570+5_7570+7dup	XP_016866340.1:n.7570+5_7570+7dup
XM_017010852.1:c.5695+5_5695+7dup	XP_016866341.1:n.5695+5_5695+7dup
NM_000426.4:c.7300+5_7300+7dup MANE Select	NP_000417.3:n.7300+5_7300+7dup
NM_001079823.2:c.7300+5_7300+7dup	NP_001073291.2:n.7300+5_7300+7dup