Canonical Allele Identifier: CA451925823

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1547380
• ClinVar RCV Id: RCV002173408
• dbSNP Id: rs1383673349
• gnomAD v2: 6-129785489-A-T
• gnomAD v3: 6-129464344-A-T
• gnomAD v4: 6-129464344-A-T
• MyVariant Identifiers: chr6:g.129785489A>T (hg19) ; chr6:g.129464344A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464344A>T , CM000668.2:g.129464344A>T	GRCh38
NC_000006.11:g.129785489A>T , CM000668.1:g.129785489A>T	GRCh37
NC_000006.10:g.129827182A>T	NCBI36
NG_008678.1:g.586204A>T , LRG_409:g.586204A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.7047A>T	ENSP00000481744.2:p.Ala2349=
ENST00000618192.5:c.7311A>T	ENSP00000480802.2:p.Ala2437=
ENST00000684985.1:n.678A>T
ENST00000688150.1:n.386A>T
ENST00000421865.3:c.7047A>T MANE Select	ENSP00000400365.2:p.Ala2349=
ENST00000421865.2:c.7047A>T	ENSP00000400365.2:p.Ala2349=
ENST00000617695.4:c.7047A>T	ENSP00000481744.1:p.Ala2349=
ENST00000618192.4:c.7044A>T	ENSP00000480802.1:p.Ala2348=
NM_000426.3:c.7047A>T , LRG_409t1:c.7047A>T	NP_000417.2:p.Ala2349=
NM_001079823.1:c.7047A>T	NP_001073291.1:p.Ala2349=
XM_005266981.2:c.7311A>T	XP_005267038.1:p.Ala2437=
XM_005266982.2:c.7311A>T	XP_005267039.1:p.Ala2437=
XM_011535820.1:c.7305A>T	XP_011534122.1:p.Ala2435=
XM_005266981.3:c.7311A>T	XP_005267038.1:p.Ala2437=
XM_005266982.3:c.7311A>T	XP_005267039.1:p.Ala2437=
XM_011535820.2:c.7305A>T	XP_011534122.1:p.Ala2435=
XM_017010851.2:c.7317A>T	XP_016866340.1:p.Ala2439=
XM_017010852.1:c.5442A>T	XP_016866341.1:p.Ala1814=
NM_000426.4:c.7047A>T MANE Select	NP_000417.3:p.Ala2349=
NM_001079823.2:c.7047A>T	NP_001073291.2:p.Ala2349=