Canonical Allele Identifier: CA274989

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 194172
• ClinVar RCV Id: RCV000174478
• dbSNP Id: rs797044643
• MyVariant Identifiers: chr6:g.129571329_129571330insATGTTCAC (hg19) ; chr6:g.129250184_129250185insATGTTCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250184_129250185insATGTTCAC , CM000668.2:g.129250184_129250185insATGTTCAC	GRCh38
NC_000006.11:g.129571329_129571330insATGTTCAC , CM000668.1:g.129571329_129571330insATGTTCAC	GRCh37
NC_000006.10:g.129613022_129613023insATGTTCAC	NCBI36
NG_008678.1:g.372044_372045insATGTTCAC , LRG_409:g.372044_372045insATGTTCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.1855_1856insATGTTCAC	ENSP00000481744.2:p.Arg619HisfsTer9
ENST00000618192.5:c.1855_1856insATGTTCAC	ENSP00000480802.2:p.Arg619HisfsTer9
ENST00000421865.3:c.1855_1856insATGTTCAC MANE Select	ENSP00000400365.2:p.Arg619HisfsTer9
ENST00000421865.2:c.1855_1856insATGTTCAC	ENSP00000400365.2:p.Arg619HisfsTer9
ENST00000617695.4:c.1855_1856insATGTTCAC	ENSP00000481744.1:p.Arg619HisfsTer9
ENST00000618192.4:c.1855_1856insATGTTCAC	ENSP00000480802.1:p.Arg619HisfsTer9
NM_000426.3:c.1855_1856insATGTTCAC , LRG_409t1:c.1855_1856insATGTTCAC	NP_000417.2:p.Arg619HisfsTer9
NM_001079823.1:c.1855_1856insATGTTCAC	NP_001073291.1:p.Arg619HisfsTer9
XM_005266981.2:c.1855_1856insATGTTCAC	XP_005267038.1:p.Arg619HisfsTer9
XM_005266982.2:c.1855_1856insATGTTCAC	XP_005267039.1:p.Arg619HisfsTer9
XM_011535820.1:c.1855_1856insATGTTCAC	XP_011534122.1:p.Arg619HisfsTer9
XM_005266981.3:c.1855_1856insATGTTCAC	XP_005267038.1:p.Arg619HisfsTer9
XM_005266982.3:c.1855_1856insATGTTCAC	XP_005267039.1:p.Arg619HisfsTer9
XM_011535820.2:c.1855_1856insATGTTCAC	XP_011534122.1:p.Arg619HisfsTer9
XM_017010851.2:c.1861_1862insATGTTCAC	XP_016866340.1:p.Arg621HisfsTer9
XM_017010852.1:c.-15_-14insATGTTCAC	XP_016866341.1:n.-15_-14insATGTTCAC
XM_017010853.1:c.1855_1856insATGTTCAC	XP_016866342.1:p.Arg619HisfsTer9
NM_000426.4:c.1855_1856insATGTTCAC MANE Select	NP_000417.3:p.Arg619HisfsTer9
NM_001079823.2:c.1855_1856insATGTTCAC	NP_001073291.2:p.Arg619HisfsTer9