Canonical Allele Identifier: CA10606868

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 290668
• ClinVar RCV Id: RCV000306212
• dbSNP Id: rs746762473
• gnomAD v4: 6-129402366-G-T
• MyVariant Identifiers: chr6:g.129723511G>T (hg19) ; chr6:g.129402366G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129402366G>T , CM000668.2:g.129402366G>T	GRCh38
NC_000006.11:g.129723511G>T , CM000668.1:g.129723511G>T	GRCh37
NC_000006.10:g.129765204G>T	NCBI36
NG_008678.1:g.524226G>T , LRG_409:g.524226G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.5605G>T	ENSP00000481744.2:p.Glu1869Ter
ENST00000618192.5:c.5869G>T	ENSP00000480802.2:p.Glu1957Ter
ENST00000421865.3:c.5605G>T MANE Select	ENSP00000400365.2:p.Glu1869Ter
ENST00000421865.2:c.5605G>T	ENSP00000400365.2:p.Glu1869Ter
ENST00000617695.4:c.5605G>T	ENSP00000481744.1:p.Glu1869Ter
ENST00000618192.4:c.5605G>T	ENSP00000480802.1:p.Glu1869Ter
NM_000426.3:c.5605G>T , LRG_409t1:c.5605G>T	NP_000417.2:p.Glu1869Ter
NM_001079823.1:c.5605G>T	NP_001073291.1:p.Glu1869Ter
XM_005266981.2:c.5869G>T	XP_005267038.1:p.Glu1957Ter
XM_005266982.2:c.5869G>T	XP_005267039.1:p.Glu1957Ter
XM_011535820.1:c.5869G>T	XP_011534122.1:p.Glu1957Ter
XM_005266981.3:c.5869G>T	XP_005267038.1:p.Glu1957Ter
XM_005266982.3:c.5869G>T	XP_005267039.1:p.Glu1957Ter
XM_011535820.2:c.5869G>T	XP_011534122.1:p.Glu1957Ter
XM_017010851.2:c.5875G>T	XP_016866340.1:p.Glu1959Ter
XM_017010852.1:c.4000G>T	XP_016866341.1:p.Glu1334Ter
NM_000426.4:c.5605G>T MANE Select	NP_000417.3:p.Glu1869Ter
NM_001079823.2:c.5605G>T	NP_001073291.2:p.Glu1869Ter