Canonical Allele Identifier: CA2697553711

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2737590
• ClinVar RCV Id: RCV003573568

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465269del , CM000668.2:g.129465269del	GRCh38
NC_000006.11:g.129786414del , CM000668.1:g.129786414del	GRCh37
NC_000006.10:g.129828107del	NCBI36
NG_008678.1:g.587129del , LRG_409:g.587129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7280del	ENSP00000481744.2:p.Leu2427ArgfsTer13
ENST00000618192.5:c.7544del	ENSP00000480802.2:p.Leu2515ArgfsTer13
ENST00000684985.1:n.911del
ENST00000421865.3:c.7280del MANE Select	ENSP00000400365.2:p.Leu2427ArgfsTer13
ENST00000421865.2:c.7280del	ENSP00000400365.2:p.Leu2427ArgfsTer13
ENST00000617695.4:c.7280del	ENSP00000481744.1:p.Leu2427ArgfsTer13
ENST00000618192.4:c.7277del	ENSP00000480802.1:p.Leu2426ArgfsTer13
NM_000426.3:c.7280del , LRG_409t1:c.7280del	NP_000417.2:p.Leu2427ArgfsTer13
NM_001079823.1:c.7280del	NP_001073291.1:p.Leu2427ArgfsTer13
XM_005266981.2:c.7544del	XP_005267038.1:p.Leu2515ArgfsTer13
XM_005266982.2:c.7544del	XP_005267039.1:p.Leu2515ArgfsTer13
XM_011535820.1:c.7538del	XP_011534122.1:p.Leu2513ArgfsTer13
XM_005266981.3:c.7544del	XP_005267038.1:p.Leu2515ArgfsTer13
XM_005266982.3:c.7544del	XP_005267039.1:p.Leu2515ArgfsTer13
XM_011535820.2:c.7538del	XP_011534122.1:p.Leu2513ArgfsTer13
XM_017010851.2:c.7550del	XP_016866340.1:p.Leu2517ArgfsTer13
XM_017010852.1:c.5675del	XP_016866341.1:p.Leu1892ArgfsTer13
NM_000426.4:c.7280del MANE Select	NP_000417.3:p.Leu2427ArgfsTer13
NM_001079823.2:c.7280del	NP_001073291.2:p.Leu2427ArgfsTer13