Canonical Allele Identifier: CA451926432
Gene: LAMA2 HGNC NCBI

Linked Data

dbSNP Id: rs2114809861
MyVariant Identifiers: chr6:g.129786334C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465189C>T , CM000668.2:g.129465189C>T GRCh38
NC_000006.11:g.129786334C>T , CM000668.1:g.129786334C>T GRCh37
NC_000006.10:g.129828027C>T NCBI36
NG_008678.1:g.587049C>T , LRG_409:g.587049C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7200C>T ENSP00000481744.2:p.Val2400=
ENST00000618192.5:c.7464C>T ENSP00000480802.2:p.Val2488=
ENST00000684985.1:n.831C>T
ENST00000688150.1:n.539C>T
ENST00000421865.3:c.7200C>T MANE Select ENSP00000400365.2:p.Val2400=
ENST00000421865.2:c.7200C>T ENSP00000400365.2:p.Val2400=
ENST00000617695.4:c.7200C>T ENSP00000481744.1:p.Val2400=
ENST00000618192.4:c.7197C>T ENSP00000480802.1:p.Val2399=
NM_000426.3:c.7200C>T , LRG_409t1:c.7200C>T NP_000417.2:p.Val2400=
NM_001079823.1:c.7200C>T NP_001073291.1:p.Val2400=
XM_005266981.2:c.7464C>T XP_005267038.1:p.Val2488=
XM_005266982.2:c.7464C>T XP_005267039.1:p.Val2488=
XM_011535820.1:c.7458C>T XP_011534122.1:p.Val2486=
XM_005266981.3:c.7464C>T XP_005267038.1:p.Val2488=
XM_005266982.3:c.7464C>T XP_005267039.1:p.Val2488=
XM_011535820.2:c.7458C>T XP_011534122.1:p.Val2486=
XM_017010851.2:c.7470C>T XP_016866340.1:p.Val2490=
XM_017010852.1:c.5595C>T XP_016866341.1:p.Val1865=
NM_000426.4:c.7200C>T MANE Select NP_000417.3:p.Val2400=
NM_001079823.2:c.7200C>T NP_001073291.2:p.Val2400=