Canonical Allele Identifier: CA365637223

Gene: LAMA2

Linked Data

• dbSNP Id: rs1358818072
• MyVariant Identifiers: chr6:g.129837353G>A (hg19) ; chr6:g.129516208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516208G>A , CM000668.2:g.129516208G>A	GRCh38
NC_000006.11:g.129837353G>A , CM000668.1:g.129837353G>A	GRCh37
NC_000006.10:g.129879046G>A	NCBI36
NG_008678.1:g.638068G>A , LRG_409:g.638068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1295G>A	ENSP00000510626.1:p.Gly432Asp
ENST00000498257.6:c.1295G>A	ENSP00000510533.1:p.Gly432Asp
ENST00000617695.5:c.9218G>A	ENSP00000481744.2:p.Gly3073Asp
ENST00000618192.5:c.9494G>A	ENSP00000480802.2:p.Gly3165Asp
ENST00000688198.1:n.2208G>A
ENST00000688799.1:c.1295G>A	ENSP00000508458.1:p.Gly432Asp
ENST00000690858.1:n.4103G>A
ENST00000693461.1:n.1567G>A
ENST00000421865.3:c.9230G>A MANE Select	ENSP00000400365.2:p.Gly3077Asp
ENST00000421865.2:c.9230G>A	ENSP00000400365.2:p.Gly3077Asp
ENST00000617695.4:c.9218G>A	ENSP00000481744.1:p.Gly3073Asp
ENST00000618192.4:c.9227G>A	ENSP00000480802.1:p.Gly3076Asp
NM_000426.3:c.9230G>A , LRG_409t1:c.9230G>A	NP_000417.2:p.Gly3077Asp
NM_001079823.1:c.9218G>A	NP_001073291.1:p.Gly3073Asp
XM_005266981.2:c.9494G>A	XP_005267038.1:p.Gly3165Asp
XM_005266982.2:c.9482G>A	XP_005267039.1:p.Gly3161Asp
XM_011535820.1:c.9488G>A	XP_011534122.1:p.Gly3163Asp
XR_942984.1:n.1460+6269C>T
XR_942985.1:n.1324+6269C>T
XM_005266981.3:c.9494G>A	XP_005267038.1:p.Gly3165Asp
XM_005266982.3:c.9482G>A	XP_005267039.1:p.Gly3161Asp
XM_011535820.2:c.9488G>A	XP_011534122.1:p.Gly3163Asp
XM_017010851.2:c.9500G>A	XP_016866340.1:p.Gly3167Asp
XM_017010852.1:c.7625G>A	XP_016866341.1:p.Gly2542Asp
XR_001743859.1:n.3900+6269C>T
XR_001743860.1:n.1179+6269C>T
XR_001743861.1:n.1346+6269C>T
XR_001743863.1:n.883-13417C>T
XR_002956395.1:n.9131+6269C>T
XR_002956396.1:n.3126+6269C>T
NM_000426.4:c.9230G>A MANE Select	NP_000417.3:p.Gly3077Asp
NM_001079823.2:c.9218G>A	NP_001073291.2:p.Gly3073Asp