Canonical Allele Identifier: CA570205726

Gene: LAMA2

Linked Data

• dbSNP Id: rs1263462208
• gnomAD v2: 6-129802505-AGAATGAGTCCGGCATCATTCTTTTGG-A
• gnomAD v4: 6-129481360-AGAATGAGTCCGGCATCATTCTTTTGG-A
• MyVariant Identifiers: chr6:g.129802506_129802531del (hg19) ; chr6:g.129481361_129481386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481364_129481389del , CM000668.2:g.129481364_129481389del	GRCh38
NC_000006.11:g.129802509_129802534del , CM000668.1:g.129802509_129802534del	GRCh37
NC_000006.10:g.129844202_129844227del	NCBI36
NG_008678.1:g.603224_603249del , LRG_409:g.603224_603249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7662_7687del	ENSP00000481744.2:p.Asn2554LysfsTer9
ENST00000618192.5:c.7938_7963del	ENSP00000480802.2:p.Asn2646LysfsTer9
ENST00000421865.3:c.7674_7699del MANE Select	ENSP00000400365.2:p.Asn2558LysfsTer9
ENST00000421865.2:c.7674_7699del	ENSP00000400365.2:p.Asn2558LysfsTer9
ENST00000617695.4:c.7662_7687del	ENSP00000481744.1:p.Asn2554LysfsTer9
ENST00000618192.4:c.7671_7696del	ENSP00000480802.1:p.Asn2557LysfsTer9
NM_000426.3:c.7674_7699del , LRG_409t1:c.7674_7699del	NP_000417.2:p.Asn2558LysfsTer9
NM_001079823.1:c.7662_7687del	NP_001073291.1:p.Asn2554LysfsTer9
XM_005266981.2:c.7938_7963del	XP_005267038.1:p.Asn2646LysfsTer9
XM_005266982.2:c.7926_7951del	XP_005267039.1:p.Asn2642LysfsTer9
XM_011535820.1:c.7932_7957del	XP_011534122.1:p.Asn2644LysfsTer9
XM_005266981.3:c.7938_7963del	XP_005267038.1:p.Asn2646LysfsTer9
XM_005266982.3:c.7926_7951del	XP_005267039.1:p.Asn2642LysfsTer9
XM_011535820.2:c.7932_7957del	XP_011534122.1:p.Asn2644LysfsTer9
XM_017010851.2:c.7944_7969del	XP_016866340.1:p.Asn2648LysfsTer9
XM_017010852.1:c.6069_6094del	XP_016866341.1:p.Asn2023LysfsTer9
NM_000426.4:c.7674_7699del MANE Select	NP_000417.3:p.Asn2558LysfsTer9
NM_001079823.2:c.7662_7687del	NP_001073291.2:p.Asn2554LysfsTer9