Canonical Allele Identifier: CA365617447

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2148908
• ClinVar RCV Id: RCV003068944
• dbSNP Id: rs751053800
• gnomAD v2: 6-129670483-C-G
• gnomAD v4: 6-129349338-C-G
• MyVariant Identifiers: chr6:g.129670483C>G (hg19) ; chr6:g.129349338C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4477C>G	ENSP00000481744.2:p.Arg1493Gly
ENST00000618192.5:c.4741C>G	ENSP00000480802.2:p.Arg1581Gly
ENST00000692206.1:n.126C>G
ENST00000693425.1:n.3C>G
ENST00000421865.3:c.4477C>G MANE Select	ENSP00000400365.2:p.Arg1493Gly
ENST00000421865.2:c.4477C>G	ENSP00000400365.2:p.Arg1493Gly
ENST00000617695.4:c.4477C>G	ENSP00000481744.1:p.Arg1493Gly
ENST00000618192.4:c.4477C>G	ENSP00000480802.1:p.Arg1493Gly
NM_000426.3:c.4477C>G , LRG_409t1:c.4477C>G	NP_000417.2:p.Arg1493Gly
NM_001079823.1:c.4477C>G	NP_001073291.1:p.Arg1493Gly
XM_005266981.2:c.4741C>G	XP_005267038.1:p.Arg1581Gly
XM_005266982.2:c.4741C>G	XP_005267039.1:p.Arg1581Gly
XM_011535820.1:c.4741C>G	XP_011534122.1:p.Arg1581Gly
XM_005266981.3:c.4741C>G	XP_005267038.1:p.Arg1581Gly
XM_005266982.3:c.4741C>G	XP_005267039.1:p.Arg1581Gly
XM_011535820.2:c.4741C>G	XP_011534122.1:p.Arg1581Gly
XM_017010851.2:c.4747C>G	XP_016866340.1:p.Arg1583Gly
XM_017010852.1:c.2872C>G	XP_016866341.1:p.Arg958Gly
XM_017010853.1:c.4741C>G	XP_016866342.1:p.Arg1581Gly
NM_000426.4:c.4477C>G MANE Select	NP_000417.3:p.Arg1493Gly
NM_001079823.2:c.4477C>G	NP_001073291.2:p.Arg1493Gly