Canonical Allele Identifier: CA2680313963

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129315551-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315556dup , CM000668.2:g.129315556dup	GRCh38
NC_000006.11:g.129636701dup , CM000668.1:g.129636701dup	GRCh37
NC_000006.10:g.129678394dup	NCBI36
NG_008678.1:g.437416dup , LRG_409:g.437416dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3636dup	ENSP00000481744.2:p.Gln1213SerfsTer30
ENST00000618192.5:c.3900dup	ENSP00000480802.2:p.Gln1301SerfsTer30
ENST00000421865.3:c.3636dup MANE Select	ENSP00000400365.2:p.Gln1213SerfsTer30
ENST00000421865.2:c.3636dup	ENSP00000400365.2:p.Gln1213SerfsTer30
ENST00000617695.4:c.3636dup	ENSP00000481744.1:p.Gln1213SerfsTer30
ENST00000618192.4:c.3636dup	ENSP00000480802.1:p.Gln1213SerfsTer30
NM_000426.3:c.3636dup , LRG_409t1:c.3636dup	NP_000417.2:p.Gln1213SerfsTer30
NM_001079823.1:c.3636dup	NP_001073291.1:p.Gln1213SerfsTer30
XM_005266981.2:c.3900dup	XP_005267038.1:p.Gln1301SerfsTer30
XM_005266982.2:c.3900dup	XP_005267039.1:p.Gln1301SerfsTer30
XM_011535820.1:c.3900dup	XP_011534122.1:p.Gln1301SerfsTer30
XM_005266981.3:c.3900dup	XP_005267038.1:p.Gln1301SerfsTer30
XM_005266982.3:c.3900dup	XP_005267039.1:p.Gln1301SerfsTer30
XM_011535820.2:c.3900dup	XP_011534122.1:p.Gln1301SerfsTer30
XM_017010851.2:c.3906dup	XP_016866340.1:p.Gln1303SerfsTer30
XM_017010852.1:c.2031dup	XP_016866341.1:p.Gln678SerfsTer30
XM_017010853.1:c.3900dup	XP_016866342.1:p.Gln1301SerfsTer30
NM_000426.4:c.3636dup MANE Select	NP_000417.3:p.Gln1213SerfsTer30
NM_001079823.2:c.3636dup	NP_001073291.2:p.Gln1213SerfsTer30