Canonical Allele Identifier: CA2580074942

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1725148
• ClinVar RCV Id: RCV002308207

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129342428_129342429del , CM000668.2:g.129342428_129342429del	GRCh38
NC_000006.11:g.129663573_129663574del , CM000668.1:g.129663573_129663574del	GRCh37
NC_000006.10:g.129705266_129705267del	NCBI36
NG_008678.1:g.464288_464289del , LRG_409:g.464288_464289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.4397_4398del	ENSP00000481744.2:p.Cys1466SerfsTer12
ENST00000618192.5:c.4661_4662del	ENSP00000480802.2:p.Cys1554SerfsTer12
ENST00000692206.1:n.46_47del
ENST00000421865.3:c.4397_4398del MANE Select	ENSP00000400365.2:p.Cys1466SerfsTer12
ENST00000421865.2:c.4397_4398del	ENSP00000400365.2:p.Cys1466SerfsTer12
ENST00000617695.4:c.4397_4398del	ENSP00000481744.1:p.Cys1466SerfsTer12
ENST00000618192.4:c.4397_4398del	ENSP00000480802.1:p.Cys1466SerfsTer12
NM_000426.3:c.4397_4398del , LRG_409t1:c.4397_4398del	NP_000417.2:p.Cys1466SerfsTer12
NM_001079823.1:c.4397_4398del	NP_001073291.1:p.Cys1466SerfsTer12
XM_005266981.2:c.4661_4662del	XP_005267038.1:p.Cys1554SerfsTer12
XM_005266982.2:c.4661_4662del	XP_005267039.1:p.Cys1554SerfsTer12
XM_011535820.1:c.4661_4662del	XP_011534122.1:p.Cys1554SerfsTer12
XM_005266981.3:c.4661_4662del	XP_005267038.1:p.Cys1554SerfsTer12
XM_005266982.3:c.4661_4662del	XP_005267039.1:p.Cys1554SerfsTer12
XM_011535820.2:c.4661_4662del	XP_011534122.1:p.Cys1554SerfsTer12
XM_017010851.2:c.4667_4668del	XP_016866340.1:p.Cys1556SerfsTer12
XM_017010852.1:c.2792_2793del	XP_016866341.1:p.Cys931SerfsTer12
XM_017010853.1:c.4661_4662del	XP_016866342.1:p.Cys1554SerfsTer12
NM_000426.4:c.4397_4398del MANE Select	NP_000417.3:p.Cys1466SerfsTer12
NM_001079823.2:c.4397_4398del	NP_001073291.2:p.Cys1466SerfsTer12