Canonical Allele Identifier: CA2580074893

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1997742
• ClinVar RCV Id: RCV002791926

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250210_129250213del , CM000668.2:g.129250210_129250213del	GRCh38
NC_000006.11:g.129571355_129571358del , CM000668.1:g.129571355_129571358del	GRCh37
NC_000006.10:g.129613048_129613051del	NCBI36
NG_008678.1:g.372070_372073del , LRG_409:g.372070_372073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.1881_1884del	ENSP00000481744.2:p.Glu628ValfsTer4
ENST00000618192.5:c.1881_1884del	ENSP00000480802.2:p.Glu628ValfsTer4
ENST00000421865.3:c.1881_1884del MANE Select	ENSP00000400365.2:p.Glu628ValfsTer4
ENST00000421865.2:c.1881_1884del	ENSP00000400365.2:p.Glu628ValfsTer4
ENST00000617695.4:c.1881_1884del	ENSP00000481744.1:p.Glu628ValfsTer4
ENST00000618192.4:c.1881_1884del	ENSP00000480802.1:p.Glu628ValfsTer4
NM_000426.3:c.1881_1884del , LRG_409t1:c.1881_1884del	NP_000417.2:p.Glu628ValfsTer4
NM_001079823.1:c.1881_1884del	NP_001073291.1:p.Glu628ValfsTer4
XM_005266981.2:c.1881_1884del	XP_005267038.1:p.Glu628ValfsTer4
XM_005266982.2:c.1881_1884del	XP_005267039.1:p.Glu628ValfsTer4
XM_011535820.1:c.1881_1884del	XP_011534122.1:p.Glu628ValfsTer4
XM_005266981.3:c.1881_1884del	XP_005267038.1:p.Glu628ValfsTer4
XM_005266982.3:c.1881_1884del	XP_005267039.1:p.Glu628ValfsTer4
XM_011535820.2:c.1881_1884del	XP_011534122.1:p.Glu628ValfsTer4
XM_017010851.2:c.1887_1890del	XP_016866340.1:p.Glu630ValfsTer4
XM_017010852.1:c.12_15del	XP_016866341.1:p.Glu5ValfsTer4
XM_017010853.1:c.1881_1884del	XP_016866342.1:p.Glu628ValfsTer4
NM_000426.4:c.1881_1884del MANE Select	NP_000417.3:p.Glu628ValfsTer4
NM_001079823.2:c.1881_1884del	NP_001073291.2:p.Glu628ValfsTer4