Canonical Allele Identifier: CA570051714

Gene: LAMA2

Linked Data

• dbSNP Id: rs1463098514
• gnomAD v2: 6-129619057-A-AGGGT
• gnomAD v3: 6-129297912-A-AGGGT
• gnomAD v4: 6-129297912-A-AGGGT
• MyVariant Identifiers: chr6:g.129619062_129619063delinsGGGTCT (hg19) ; chr6:g.129619057_129619058insGGGT (hg19) ; chr6:g.129297917_129297918delinsGGGTCT (hg38) ; chr6:g.129297912_129297913insGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297913_129297916dup , CM000668.2:g.129297913_129297916dup	GRCh38
NC_000006.11:g.129619058_129619061dup , CM000668.1:g.129619058_129619061dup	GRCh37
NC_000006.10:g.129660751_129660754dup	NCBI36
NG_008678.1:g.419773_419776dup , LRG_409:g.419773_419776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3037+48_3037+51dup	ENSP00000481744.2:n.3037+48_3037+51dup
ENST00000618192.5:c.3301+48_3301+51dup	ENSP00000480802.2:n.3301+48_3301+51dup
ENST00000421865.3:c.3037+48_3037+51dup MANE Select	ENSP00000400365.2:n.3037+48_3037+51dup
ENST00000421865.2:c.3037+48_3037+51dup	ENSP00000400365.2:n.3037+48_3037+51dup
ENST00000617695.4:c.3037+48_3037+51dup	ENSP00000481744.1:n.3037+48_3037+51dup
ENST00000618192.4:c.3037+48_3037+51dup	ENSP00000480802.1:n.3037+48_3037+51dup
NM_000426.3:c.3037+48_3037+51dup , LRG_409t1:c.3037+48_3037+51dup	NP_000417.2:n.3037+48_3037+51dup
NM_001079823.1:c.3037+48_3037+51dup	NP_001073291.1:n.3037+48_3037+51dup
XM_005266981.2:c.3301+48_3301+51dup	XP_005267038.1:n.3301+48_3301+51dup
XM_005266982.2:c.3301+48_3301+51dup	XP_005267039.1:n.3301+48_3301+51dup
XM_011535820.1:c.3301+48_3301+51dup	XP_011534122.1:n.3301+48_3301+51dup
XM_005266981.3:c.3301+48_3301+51dup	XP_005267038.1:n.3301+48_3301+51dup
XM_005266982.3:c.3301+48_3301+51dup	XP_005267039.1:n.3301+48_3301+51dup
XM_011535820.2:c.3301+48_3301+51dup	XP_011534122.1:n.3301+48_3301+51dup
XM_017010851.2:c.3307+48_3307+51dup	XP_016866340.1:n.3307+48_3307+51dup
XM_017010852.1:c.1432+48_1432+51dup	XP_016866341.1:n.1432+48_1432+51dup
XM_017010853.1:c.3301+48_3301+51dup	XP_016866342.1:n.3301+48_3301+51dup
NM_000426.4:c.3037+48_3037+51dup MANE Select	NP_000417.3:n.3037+48_3037+51dup
NM_001079823.2:c.3037+48_3037+51dup	NP_001073291.2:n.3037+48_3037+51dup