Canonical Allele Identifier: CA3994132

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 376977
• ClinVar RCV Id: RCV000422473 ; RCV000672201 ; RCV002524713
• dbSNP Id: rs758495000
• ExAC: 6:129762069 TGAA / T
• gnomAD v2: 6-129762069-TGAA-T
• gnomAD v3: 6-129440924-TGAA-T
• gnomAD v4: 6-129440924-TGAA-T
• COSMIC: COSM1440393
• MyVariant Identifiers: chr6:g.129762070_129762072del (hg19) ; chr6:g.129440925_129440927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129440931_129440933del , CM000668.2:g.129440931_129440933del	GRCh38
NC_000006.11:g.129762076_129762078del , CM000668.1:g.129762076_129762078del	GRCh37
NC_000006.10:g.129803769_129803771del	NCBI36
NG_008678.1:g.562791_562793del , LRG_409:g.562791_562793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6201_6203del	ENSP00000481744.2:p.Lys2067del
ENST00000618192.5:c.6465_6467del	ENSP00000480802.2:p.Lys2155del
ENST00000421865.3:c.6201_6203del MANE Select	ENSP00000400365.2:p.Lys2067del
ENST00000421865.2:c.6201_6203del	ENSP00000400365.2:p.Lys2067del
ENST00000617695.4:c.6201_6203del	ENSP00000481744.1:p.Lys2067del
ENST00000618192.4:c.6201_6203del	ENSP00000480802.1:p.Lys2067del
NM_000426.3:c.6201_6203del , LRG_409t1:c.6201_6203del	NP_000417.2:p.Lys2067del
NM_001079823.1:c.6201_6203del	NP_001073291.1:p.Lys2067del
XM_005266981.2:c.6465_6467del	XP_005267038.1:p.Lys2155del
XM_005266982.2:c.6465_6467del	XP_005267039.1:p.Lys2155del
XM_011535820.1:c.6465_6467del	XP_011534122.1:p.Lys2155del
XM_005266981.3:c.6465_6467del	XP_005267038.1:p.Lys2155del
XM_005266982.3:c.6465_6467del	XP_005267039.1:p.Lys2155del
XM_011535820.2:c.6465_6467del	XP_011534122.1:p.Lys2155del
XM_017010851.2:c.6471_6473del	XP_016866340.1:p.Lys2157del
XM_017010852.1:c.4596_4598del	XP_016866341.1:p.Lys1532del
NM_000426.4:c.6201_6203del MANE Select	NP_000417.3:p.Lys2067del
NM_001079823.2:c.6201_6203del	NP_001073291.2:p.Lys2067del