Canonical Allele Identifier: CA2695206953

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465177del , CM000668.2:g.129465177del	GRCh38
NC_000006.11:g.129786322del , CM000668.1:g.129786322del	GRCh37
NC_000006.10:g.129828015del	NCBI36
NG_008678.1:g.587037del , LRG_409:g.587037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7188del	ENSP00000481744.2:p.His2397ThrfsTer2
ENST00000618192.5:c.7452del	ENSP00000480802.2:p.His2485ThrfsTer2
ENST00000684985.1:n.819del
ENST00000688150.1:n.527del
ENST00000421865.3:c.7188del MANE Select	ENSP00000400365.2:p.His2397ThrfsTer2
ENST00000421865.2:c.7188del	ENSP00000400365.2:p.His2397ThrfsTer2
ENST00000617695.4:c.7188del	ENSP00000481744.1:p.His2397ThrfsTer2
ENST00000618192.4:c.7185del	ENSP00000480802.1:p.His2396ThrfsTer2
NM_000426.3:c.7188del , LRG_409t1:c.7188del	NP_000417.2:p.His2397ThrfsTer2
NM_001079823.1:c.7188del	NP_001073291.1:p.His2397ThrfsTer2
XM_005266981.2:c.7452del	XP_005267038.1:p.His2485ThrfsTer2
XM_005266982.2:c.7452del	XP_005267039.1:p.His2485ThrfsTer2
XM_011535820.1:c.7446del	XP_011534122.1:p.His2483ThrfsTer2
XM_005266981.3:c.7452del	XP_005267038.1:p.His2485ThrfsTer2
XM_005266982.3:c.7452del	XP_005267039.1:p.His2485ThrfsTer2
XM_011535820.2:c.7446del	XP_011534122.1:p.His2483ThrfsTer2
XM_017010851.2:c.7458del	XP_016866340.1:p.His2487ThrfsTer2
XM_017010852.1:c.5583del	XP_016866341.1:p.His1862ThrfsTer2
NM_000426.4:c.7188del MANE Select	NP_000417.3:p.His2397ThrfsTer2
NM_001079823.2:c.7188del	NP_001073291.2:p.His2397ThrfsTer2