Canonical Allele Identifier: CA451936499
Gene: LAMA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.129837360A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129516215A>G , CM000668.2:g.129516215A>G GRCh38
NC_000006.11:g.129837360A>G , CM000668.1:g.129837360A>G GRCh37
NC_000006.10:g.129879053A>G NCBI36
NG_008678.1:g.638075A>G , LRG_409:g.638075A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1302A>G ENSP00000510626.1:p.Thr434=
ENST00000498257.6:c.1302A>G ENSP00000510533.1:p.Thr434=
ENST00000617695.5:c.9225A>G ENSP00000481744.2:p.Thr3075=
ENST00000618192.5:c.9501A>G ENSP00000480802.2:p.Thr3167=
ENST00000688198.1:n.2215A>G
ENST00000688799.1:c.1302A>G ENSP00000508458.1:p.Thr434=
ENST00000690858.1:n.4110A>G
ENST00000693461.1:n.1574A>G
ENST00000421865.3:c.9237A>G MANE Select ENSP00000400365.2:p.Thr3079=
ENST00000421865.2:c.9237A>G ENSP00000400365.2:p.Thr3079=
ENST00000617695.4:c.9225A>G ENSP00000481744.1:p.Thr3075=
ENST00000618192.4:c.9234A>G ENSP00000480802.1:p.Thr3078=
NM_000426.3:c.9237A>G , LRG_409t1:c.9237A>G NP_000417.2:p.Thr3079=
NM_001079823.1:c.9225A>G NP_001073291.1:p.Thr3075=
XM_005266981.2:c.9501A>G XP_005267038.1:p.Thr3167=
XM_005266982.2:c.9489A>G XP_005267039.1:p.Thr3163=
XM_011535820.1:c.9495A>G XP_011534122.1:p.Thr3165=
XR_942984.1:n.1460+6262T>C
XR_942985.1:n.1324+6262T>C
XM_005266981.3:c.9501A>G XP_005267038.1:p.Thr3167=
XM_005266982.3:c.9489A>G XP_005267039.1:p.Thr3163=
XM_011535820.2:c.9495A>G XP_011534122.1:p.Thr3165=
XM_017010851.2:c.9507A>G XP_016866340.1:p.Thr3169=
XM_017010852.1:c.7632A>G XP_016866341.1:p.Thr2544=
XR_001743859.1:n.3900+6262T>C
XR_001743860.1:n.1179+6262T>C
XR_001743861.1:n.1346+6262T>C
XR_001743863.1:n.883-13424T>C
XR_002956395.1:n.9131+6262T>C
XR_002956396.1:n.3126+6262T>C
NM_000426.4:c.9237A>G MANE Select NP_000417.3:p.Thr3079=
NM_001079823.2:c.9225A>G NP_001073291.2:p.Thr3075=