Canonical Allele Identifier: CA3993566

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 557224
• ClinVar RCV Id: RCV000673335
• dbSNP Id: rs751053800
• ExAC: 6:129670483 C / T
• gnomAD v2: 6-129670483-C-T
• gnomAD v3: 6-129349338-C-T
• gnomAD v4: 6-129349338-C-T
• MyVariant Identifiers: chr6:g.129670483C>T (hg19) ; chr6:g.129349338C>T (hg38)
• PubMed: PMID:23911319

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349338C>T , CM000668.2:g.129349338C>T	GRCh38
NC_000006.11:g.129670483C>T , CM000668.1:g.129670483C>T	GRCh37
NC_000006.10:g.129712176C>T	NCBI36
NG_008678.1:g.471198C>T , LRG_409:g.471198C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4477C>T	ENSP00000481744.2:p.Arg1493Cys
ENST00000618192.5:c.4741C>T	ENSP00000480802.2:p.Arg1581Cys
ENST00000692206.1:n.126C>T
ENST00000693425.1:n.3C>T
ENST00000421865.3:c.4477C>T MANE Select	ENSP00000400365.2:p.Arg1493Cys
ENST00000421865.2:c.4477C>T	ENSP00000400365.2:p.Arg1493Cys
ENST00000617695.4:c.4477C>T	ENSP00000481744.1:p.Arg1493Cys
ENST00000618192.4:c.4477C>T	ENSP00000480802.1:p.Arg1493Cys
NM_000426.3:c.4477C>T , LRG_409t1:c.4477C>T	NP_000417.2:p.Arg1493Cys
NM_001079823.1:c.4477C>T	NP_001073291.1:p.Arg1493Cys
XM_005266981.2:c.4741C>T	XP_005267038.1:p.Arg1581Cys
XM_005266982.2:c.4741C>T	XP_005267039.1:p.Arg1581Cys
XM_011535820.1:c.4741C>T	XP_011534122.1:p.Arg1581Cys
XM_005266981.3:c.4741C>T	XP_005267038.1:p.Arg1581Cys
XM_005266982.3:c.4741C>T	XP_005267039.1:p.Arg1581Cys
XM_011535820.2:c.4741C>T	XP_011534122.1:p.Arg1581Cys
XM_017010851.2:c.4747C>T	XP_016866340.1:p.Arg1583Cys
XM_017010852.1:c.2872C>T	XP_016866341.1:p.Arg958Cys
XM_017010853.1:c.4741C>T	XP_016866342.1:p.Arg1581Cys
NM_000426.4:c.4477C>T MANE Select	NP_000417.3:p.Arg1493Cys
NM_001079823.2:c.4477C>T	NP_001073291.2:p.Arg1493Cys