Canonical Allele Identifier: CA451926423
Gene: LAMA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.129786328A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465183A>T , CM000668.2:g.129465183A>T GRCh38
NC_000006.11:g.129786328A>T , CM000668.1:g.129786328A>T GRCh37
NC_000006.10:g.129828021A>T NCBI36
NG_008678.1:g.587043A>T , LRG_409:g.587043A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7194A>T ENSP00000481744.2:p.Ile2398=
ENST00000618192.5:c.7458A>T ENSP00000480802.2:p.Ile2486=
ENST00000684985.1:n.825A>T
ENST00000688150.1:n.533A>T
ENST00000421865.3:c.7194A>T MANE Select ENSP00000400365.2:p.Ile2398=
ENST00000421865.2:c.7194A>T ENSP00000400365.2:p.Ile2398=
ENST00000617695.4:c.7194A>T ENSP00000481744.1:p.Ile2398=
ENST00000618192.4:c.7191A>T ENSP00000480802.1:p.Ile2397=
NM_000426.3:c.7194A>T , LRG_409t1:c.7194A>T NP_000417.2:p.Ile2398=
NM_001079823.1:c.7194A>T NP_001073291.1:p.Ile2398=
XM_005266981.2:c.7458A>T XP_005267038.1:p.Ile2486=
XM_005266982.2:c.7458A>T XP_005267039.1:p.Ile2486=
XM_011535820.1:c.7452A>T XP_011534122.1:p.Ile2484=
XM_005266981.3:c.7458A>T XP_005267038.1:p.Ile2486=
XM_005266982.3:c.7458A>T XP_005267039.1:p.Ile2486=
XM_011535820.2:c.7452A>T XP_011534122.1:p.Ile2484=
XM_017010851.2:c.7464A>T XP_016866340.1:p.Ile2488=
XM_017010852.1:c.5589A>T XP_016866341.1:p.Ile1863=
NM_000426.4:c.7194A>T MANE Select NP_000417.3:p.Ile2398=
NM_001079823.2:c.7194A>T NP_001073291.2:p.Ile2398=