Canonical Allele Identifier: CA3993130

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1451485
• ClinVar RCV Id: RCV001993264
• dbSNP Id: rs757164022
• ExAC: 6:129618992 CAA / C
• gnomAD v2: 6-129618992-CAA-C
• gnomAD v3: 6-129297847-CAA-C
• gnomAD v4: 6-129297847-CAA-C
• MyVariant Identifiers: chr6:g.129618993_129618994del (hg19) ; chr6:g.129297848_129297849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297848_129297849del , CM000668.2:g.129297848_129297849del	GRCh38
NC_000006.11:g.129618993_129618994del , CM000668.1:g.129618993_129618994del	GRCh37
NC_000006.10:g.129660686_129660687del	NCBI36
NG_008678.1:g.419708_419709del , LRG_409:g.419708_419709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3020_3021del	ENSP00000481744.2:p.Gln1007ArgfsTer8
ENST00000618192.5:c.3284_3285del	ENSP00000480802.2:p.Gln1095ArgfsTer8
ENST00000421865.3:c.3020_3021del MANE Select	ENSP00000400365.2:p.Gln1007ArgfsTer8
ENST00000645154.1:c.535_536del
ENST00000421865.2:c.3020_3021del	ENSP00000400365.2:p.Gln1007ArgfsTer8
ENST00000617695.4:c.3020_3021del	ENSP00000481744.1:p.Gln1007ArgfsTer8
ENST00000618192.4:c.3020_3021del	ENSP00000480802.1:p.Gln1007ArgfsTer8
NM_000426.3:c.3020_3021del , LRG_409t1:c.3020_3021del	NP_000417.2:p.Gln1007ArgfsTer8
NM_001079823.1:c.3020_3021del	NP_001073291.1:p.Gln1007ArgfsTer8
XM_005266981.2:c.3284_3285del	XP_005267038.1:p.Gln1095ArgfsTer8
XM_005266982.2:c.3284_3285del	XP_005267039.1:p.Gln1095ArgfsTer8
XM_011535820.1:c.3284_3285del	XP_011534122.1:p.Gln1095ArgfsTer8
XM_005266981.3:c.3284_3285del	XP_005267038.1:p.Gln1095ArgfsTer8
XM_005266982.3:c.3284_3285del	XP_005267039.1:p.Gln1095ArgfsTer8
XM_011535820.2:c.3284_3285del	XP_011534122.1:p.Gln1095ArgfsTer8
XM_017010851.2:c.3290_3291del	XP_016866340.1:p.Gln1097ArgfsTer8
XM_017010852.1:c.1415_1416del	XP_016866341.1:p.Gln472ArgfsTer8
XM_017010853.1:c.3284_3285del	XP_016866342.1:p.Gln1095ArgfsTer8
NM_000426.4:c.3020_3021del MANE Select	NP_000417.3:p.Gln1007ArgfsTer8
NM_001079823.2:c.3020_3021del	NP_001073291.2:p.Gln1007ArgfsTer8