Canonical Allele Identifier: CA2695198345

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2676255
• ClinVar RCV Id: RCV003469914

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481382_129481383insA , CM000668.2:g.129481382_129481383insA	GRCh38
NC_000006.11:g.129802527_129802528insA , CM000668.1:g.129802527_129802528insA	GRCh37
NC_000006.10:g.129844220_129844221insA	NCBI36
NG_008678.1:g.603242_603243insA , LRG_409:g.603242_603243insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7680_7681insA	ENSP00000481744.2:p.Leu2561IlefsTer11
ENST00000618192.5:c.7956_7957insA	ENSP00000480802.2:p.Leu2653IlefsTer11
ENST00000421865.3:c.7692_7693insA MANE Select	ENSP00000400365.2:p.Leu2565IlefsTer11
ENST00000421865.2:c.7692_7693insA	ENSP00000400365.2:p.Leu2565IlefsTer11
ENST00000617695.4:c.7680_7681insA	ENSP00000481744.1:p.Leu2561IlefsTer11
ENST00000618192.4:c.7689_7690insA	ENSP00000480802.1:p.Leu2564IlefsTer11
NM_000426.3:c.7692_7693insA , LRG_409t1:c.7692_7693insA	NP_000417.2:p.Leu2565IlefsTer11
NM_001079823.1:c.7680_7681insA	NP_001073291.1:p.Leu2561IlefsTer11
XM_005266981.2:c.7956_7957insA	XP_005267038.1:p.Leu2653IlefsTer11
XM_005266982.2:c.7944_7945insA	XP_005267039.1:p.Leu2649IlefsTer11
XM_011535820.1:c.7950_7951insA	XP_011534122.1:p.Leu2651IlefsTer11
XM_005266981.3:c.7956_7957insA	XP_005267038.1:p.Leu2653IlefsTer11
XM_005266982.3:c.7944_7945insA	XP_005267039.1:p.Leu2649IlefsTer11
XM_011535820.2:c.7950_7951insA	XP_011534122.1:p.Leu2651IlefsTer11
XM_017010851.2:c.7962_7963insA	XP_016866340.1:p.Leu2655IlefsTer11
XM_017010852.1:c.6087_6088insA	XP_016866341.1:p.Leu2030IlefsTer11
NM_000426.4:c.7692_7693insA MANE Select	NP_000417.3:p.Leu2565IlefsTer11
NM_001079823.2:c.7680_7681insA	NP_001073291.2:p.Leu2561IlefsTer11