Canonical Allele Identifier: CA365634805

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 522991
• ClinVar RCV Id: RCV000626189
• dbSNP Id: rs778258870
• MyVariant Identifiers: chr6:g.129826388A>T (hg19) ; chr6:g.129505243A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505243A>T , CM000668.2:g.129505243A>T	GRCh38
NC_000006.11:g.129826388A>T , CM000668.1:g.129826388A>T	GRCh37
NC_000006.10:g.129868081A>T	NCBI36
NG_008678.1:g.627103A>T , LRG_409:g.627103A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.656A>T	ENSP00000510626.1:p.Asp219Val
ENST00000498257.6:c.656A>T	ENSP00000510533.1:p.Asp219Val
ENST00000617695.5:c.8579A>T	ENSP00000481744.2:p.Asp2860Val
ENST00000618192.5:c.8855A>T	ENSP00000480802.2:p.Asp2952Val
ENST00000688198.1:n.1569A>T
ENST00000688799.1:c.656A>T	ENSP00000508458.1:p.Asp219Val
ENST00000690858.1:n.1585A>T
ENST00000693461.1:n.928A>T
ENST00000421865.3:c.8591A>T MANE Select	ENSP00000400365.2:p.Asp2864Val
ENST00000421865.2:c.8591A>T	ENSP00000400365.2:p.Asp2864Val
ENST00000617695.4:c.8579A>T	ENSP00000481744.1:p.Asp2860Val
ENST00000618192.4:c.8588A>T	ENSP00000480802.1:p.Asp2863Val
NM_000426.3:c.8591A>T , LRG_409t1:c.8591A>T	NP_000417.2:p.Asp2864Val
NM_001079823.1:c.8579A>T	NP_001073291.1:p.Asp2860Val
XM_005266981.2:c.8855A>T	XP_005267038.1:p.Asp2952Val
XM_005266982.2:c.8843A>T	XP_005267039.1:p.Asp2948Val
XM_011535820.1:c.8849A>T	XP_011534122.1:p.Asp2950Val
XR_942984.1:n.1461-2452T>A
XR_942985.1:n.1325-2452T>A
XM_005266981.3:c.8855A>T	XP_005267038.1:p.Asp2952Val
XM_005266982.3:c.8843A>T	XP_005267039.1:p.Asp2948Val
XM_011535820.2:c.8849A>T	XP_011534122.1:p.Asp2950Val
XM_017010851.2:c.8861A>T	XP_016866340.1:p.Asp2954Val
XM_017010852.1:c.6986A>T	XP_016866341.1:p.Asp2329Val
XR_001743859.1:n.3901-2452T>A
XR_001743860.1:n.1180-2452T>A
XR_001743861.1:n.1347-2452T>A
XR_001743863.1:n.883-2452T>A
XR_002956395.1:n.9132-2452T>A
XR_002956396.1:n.3127-2452T>A
NM_000426.4:c.8591A>T MANE Select	NP_000417.3:p.Asp2864Val
NM_001079823.2:c.8579A>T	NP_001073291.2:p.Asp2860Val