Canonical Allele Identifier: CA2580074991

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1726565
• ClinVar RCV Id: RCV002310249

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465204_129465206delinsA , CM000668.2:g.129465204_129465206delinsA	GRCh38
NC_000006.11:g.129786349_129786351delinsA , CM000668.1:g.129786349_129786351delinsA	GRCh37
NC_000006.10:g.129828042_129828044delinsA	NCBI36
NG_008678.1:g.587064_587066delinsA , LRG_409:g.587064_587066delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7215_7217delinsA	ENSP00000481744.2:p.Ser2406ArgfsTer12
ENST00000618192.5:c.7479_7481delinsA	ENSP00000480802.2:p.Ser2494ArgfsTer12
ENST00000684985.1:n.846_848delinsA
ENST00000688150.1:n.554_556delinsA
ENST00000421865.3:c.7215_7217delinsA MANE Select	ENSP00000400365.2:p.Ser2406ArgfsTer12
ENST00000421865.2:c.7215_7217delinsA	ENSP00000400365.2:p.Ser2406ArgfsTer12
ENST00000617695.4:c.7215_7217delinsA	ENSP00000481744.1:p.Ser2406ArgfsTer12
ENST00000618192.4:c.7212_7214delinsA	ENSP00000480802.1:p.Ser2405ArgfsTer12
NM_000426.3:c.7215_7217delinsA , LRG_409t1:c.7215_7217delinsA	NP_000417.2:p.Ser2406ArgfsTer12
NM_001079823.1:c.7215_7217delinsA	NP_001073291.1:p.Ser2406ArgfsTer12
XM_005266981.2:c.7479_7481delinsA	XP_005267038.1:p.Ser2494ArgfsTer12
XM_005266982.2:c.7479_7481delinsA	XP_005267039.1:p.Ser2494ArgfsTer12
XM_011535820.1:c.7473_7475delinsA	XP_011534122.1:p.Ser2492ArgfsTer12
XM_005266981.3:c.7479_7481delinsA	XP_005267038.1:p.Ser2494ArgfsTer12
XM_005266982.3:c.7479_7481delinsA	XP_005267039.1:p.Ser2494ArgfsTer12
XM_011535820.2:c.7473_7475delinsA	XP_011534122.1:p.Ser2492ArgfsTer12
XM_017010851.2:c.7485_7487delinsA	XP_016866340.1:p.Ser2496ArgfsTer12
XM_017010852.1:c.5610_5612delinsA	XP_016866341.1:p.Ser1871ArgfsTer12
NM_000426.4:c.7215_7217delinsA MANE Select	NP_000417.3:p.Ser2406ArgfsTer12
NM_001079823.2:c.7215_7217delinsA	NP_001073291.2:p.Ser2406ArgfsTer12