Canonical Allele Identifier: CA146918413

Gene: LAMA2

Linked Data

• dbSNP Id: rs1031369079
• gnomAD v2: 6-129571629-ATAT-A
• gnomAD v3: 6-129250484-ATAT-A
• gnomAD v4: 6-129250484-ATAT-A
• MyVariant Identifiers: chr6:g.129571630_129571632del (hg19) ; chr6:g.129250485_129250487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250488_129250490del , CM000668.2:g.129250488_129250490del	GRCh38
NC_000006.11:g.129571633_129571635del , CM000668.1:g.129571633_129571635del	GRCh37
NC_000006.10:g.129613326_129613328del	NCBI36
NG_008678.1:g.372348_372350del , LRG_409:g.372348_372350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.1884+275_1884+277del	ENSP00000481744.2:n.1884+275_1884+277del
ENST00000618192.5:c.1884+275_1884+277del	ENSP00000480802.2:n.1884+275_1884+277del
ENST00000421865.3:c.1884+275_1884+277del MANE Select	ENSP00000400365.2:n.1884+275_1884+277del
ENST00000421865.2:c.1884+275_1884+277del	ENSP00000400365.2:n.1884+275_1884+277del
ENST00000617695.4:c.1884+275_1884+277del	ENSP00000481744.1:n.1884+275_1884+277del
ENST00000618192.4:c.1884+275_1884+277del	ENSP00000480802.1:n.1884+275_1884+277del
NM_000426.3:c.1884+275_1884+277del , LRG_409t1:c.1884+275_1884+277del	NP_000417.2:n.1884+275_1884+277del
NM_001079823.1:c.1884+275_1884+277del	NP_001073291.1:n.1884+275_1884+277del
XM_005266981.2:c.1884+275_1884+277del	XP_005267038.1:n.1884+275_1884+277del
XM_005266982.2:c.1884+275_1884+277del	XP_005267039.1:n.1884+275_1884+277del
XM_011535820.1:c.1884+275_1884+277del	XP_011534122.1:n.1884+275_1884+277del
XM_005266981.3:c.1884+275_1884+277del	XP_005267038.1:n.1884+275_1884+277del
XM_005266982.3:c.1884+275_1884+277del	XP_005267039.1:n.1884+275_1884+277del
XM_011535820.2:c.1884+275_1884+277del	XP_011534122.1:n.1884+275_1884+277del
XM_017010851.2:c.1890+275_1890+277del	XP_016866340.1:n.1890+275_1890+277del
XM_017010852.1:c.15+275_15+277del	XP_016866341.1:n.15+275_15+277del
XM_017010853.1:c.1884+275_1884+277del	XP_016866342.1:n.1884+275_1884+277del
NM_000426.4:c.1884+275_1884+277del MANE Select	NP_000417.3:n.1884+275_1884+277del
NM_001079823.2:c.1884+275_1884+277del	NP_001073291.2:n.1884+275_1884+277del