Canonical Allele Identifier: CA451935758
Gene: LAMA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.129826402A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129505257A>C , CM000668.2:g.129505257A>C GRCh38
NC_000006.11:g.129826402A>C , CM000668.1:g.129826402A>C GRCh37
NC_000006.10:g.129868095A>C NCBI36
NG_008678.1:g.627117A>C , LRG_409:g.627117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.670A>C ENSP00000510626.1:p.Arg224=
ENST00000498257.6:c.670A>C ENSP00000510533.1:p.Arg224=
ENST00000617695.5:c.8593A>C ENSP00000481744.2:p.Arg2865=
ENST00000618192.5:c.8869A>C ENSP00000480802.2:p.Arg2957=
ENST00000688198.1:n.1583A>C
ENST00000688799.1:c.670A>C ENSP00000508458.1:p.Arg224=
ENST00000690858.1:n.1599A>C
ENST00000693461.1:n.942A>C
ENST00000421865.3:c.8605A>C MANE Select ENSP00000400365.2:p.Arg2869=
ENST00000421865.2:c.8605A>C ENSP00000400365.2:p.Arg2869=
ENST00000617695.4:c.8593A>C ENSP00000481744.1:p.Arg2865=
ENST00000618192.4:c.8602A>C ENSP00000480802.1:p.Arg2868=
NM_000426.3:c.8605A>C , LRG_409t1:c.8605A>C NP_000417.2:p.Arg2869=
NM_001079823.1:c.8593A>C NP_001073291.1:p.Arg2865=
XM_005266981.2:c.8869A>C XP_005267038.1:p.Arg2957=
XM_005266982.2:c.8857A>C XP_005267039.1:p.Arg2953=
XM_011535820.1:c.8863A>C XP_011534122.1:p.Arg2955=
XR_942984.1:n.1461-2466T>G
XR_942985.1:n.1325-2466T>G
XM_005266981.3:c.8869A>C XP_005267038.1:p.Arg2957=
XM_005266982.3:c.8857A>C XP_005267039.1:p.Arg2953=
XM_011535820.2:c.8863A>C XP_011534122.1:p.Arg2955=
XM_017010851.2:c.8875A>C XP_016866340.1:p.Arg2959=
XM_017010852.1:c.7000A>C XP_016866341.1:p.Arg2334=
XR_001743859.1:n.3901-2466T>G
XR_001743860.1:n.1180-2466T>G
XR_001743861.1:n.1347-2466T>G
XR_001743863.1:n.883-2466T>G
XR_002956395.1:n.9132-2466T>G
XR_002956396.1:n.3127-2466T>G
NM_000426.4:c.8605A>C MANE Select NP_000417.3:p.Arg2869=
NM_001079823.2:c.8593A>C NP_001073291.2:p.Arg2865=