Canonical Allele Identifier: CA365634901

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826433T>A (hg19) ; chr6:g.129505288T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505288T>A , CM000668.2:g.129505288T>A	GRCh38
NC_000006.11:g.129826433T>A , CM000668.1:g.129826433T>A	GRCh37
NC_000006.10:g.129868126T>A	NCBI36
NG_008678.1:g.627148T>A , LRG_409:g.627148T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.701T>A	ENSP00000510626.1:p.Leu234Gln
ENST00000498257.6:c.701T>A	ENSP00000510533.1:p.Leu234Gln
ENST00000617695.5:c.8624T>A	ENSP00000481744.2:p.Leu2875Gln
ENST00000618192.5:c.8900T>A	ENSP00000480802.2:p.Leu2967Gln
ENST00000688198.1:n.1614T>A
ENST00000688799.1:c.701T>A	ENSP00000508458.1:p.Leu234Gln
ENST00000690858.1:n.1630T>A
ENST00000693461.1:n.973T>A
ENST00000421865.3:c.8636T>A MANE Select	ENSP00000400365.2:p.Leu2879Gln
ENST00000421865.2:c.8636T>A	ENSP00000400365.2:p.Leu2879Gln
ENST00000617695.4:c.8624T>A	ENSP00000481744.1:p.Leu2875Gln
ENST00000618192.4:c.8633T>A	ENSP00000480802.1:p.Leu2878Gln
NM_000426.3:c.8636T>A , LRG_409t1:c.8636T>A	NP_000417.2:p.Leu2879Gln
NM_001079823.1:c.8624T>A	NP_001073291.1:p.Leu2875Gln
XM_005266981.2:c.8900T>A	XP_005267038.1:p.Leu2967Gln
XM_005266982.2:c.8888T>A	XP_005267039.1:p.Leu2963Gln
XM_011535820.1:c.8894T>A	XP_011534122.1:p.Leu2965Gln
XR_942984.1:n.1461-2497A>T
XR_942985.1:n.1325-2497A>T
XM_005266981.3:c.8900T>A	XP_005267038.1:p.Leu2967Gln
XM_005266982.3:c.8888T>A	XP_005267039.1:p.Leu2963Gln
XM_011535820.2:c.8894T>A	XP_011534122.1:p.Leu2965Gln
XM_017010851.2:c.8906T>A	XP_016866340.1:p.Leu2969Gln
XM_017010852.1:c.7031T>A	XP_016866341.1:p.Leu2344Gln
XR_001743859.1:n.3901-2497A>T
XR_001743860.1:n.1180-2497A>T
XR_001743861.1:n.1347-2497A>T
XR_001743863.1:n.883-2497A>T
XR_002956395.1:n.9132-2497A>T
XR_002956396.1:n.3127-2497A>T
NM_000426.4:c.8636T>A MANE Select	NP_000417.3:p.Leu2879Gln
NM_001079823.2:c.8624T>A	NP_001073291.2:p.Leu2875Gln