Canonical Allele Identifier: CA220780
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129445714C>T , CM000668.2:g.129445714C>T GRCh38
NC_000006.11:g.129766859C>T , CM000668.1:g.129766859C>T GRCh37
NC_000006.10:g.129808552C>T NCBI36
NG_008678.1:g.567574C>T , LRG_409:g.567574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.6322C>T ENSP00000481744.2:p.Arg2108Trp
ENST00000618192.5:c.6586C>T ENSP00000480802.2:p.Arg2196Trp
ENST00000421865.3:c.6322C>T MANE Select ENSP00000400365.2:p.Arg2108Trp
ENST00000421865.2:c.6322C>T ENSP00000400365.2:p.Arg2108Trp
ENST00000617695.4:c.6322C>T ENSP00000481744.1:p.Arg2108Trp
ENST00000618192.4:c.6319C>T ENSP00000480802.1:p.Arg2107Trp
NM_000426.3:c.6322C>T , LRG_409t1:c.6322C>T NP_000417.2:p.Arg2108Trp
NM_001079823.1:c.6322C>T NP_001073291.1:p.Arg2108Trp
XM_005266981.2:c.6586C>T XP_005267038.1:p.Arg2196Trp
XM_005266982.2:c.6586C>T XP_005267039.1:p.Arg2196Trp
XM_011535820.1:c.6580C>T XP_011534122.1:p.Arg2194Trp
XM_005266981.3:c.6586C>T XP_005267038.1:p.Arg2196Trp
XM_005266982.3:c.6586C>T XP_005267039.1:p.Arg2196Trp
XM_011535820.2:c.6580C>T XP_011534122.1:p.Arg2194Trp
XM_017010851.2:c.6592C>T XP_016866340.1:p.Arg2198Trp
XM_017010852.1:c.4717C>T XP_016866341.1:p.Arg1573Trp
NM_000426.4:c.6322C>T MANE Select NP_000417.3:p.Arg2108Trp
NM_001079823.2:c.6322C>T NP_001073291.2:p.Arg2108Trp