Canonical Allele Identifier: CA200898
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 193991
dbSNP Id: rs111381107

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129192772C>T , CM000668.2:g.129192772C>T GRCh38
NC_000006.11:g.129513917C>T , CM000668.1:g.129513917C>T GRCh37
NC_000006.10:g.129555610C>T NCBI36
NG_008678.1:g.314632C>T , LRG_409:g.314632C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000421865.3:c.1701C>T MANE Select ENSP00000400365.2:p.Ile567=
ENST00000421865.2:c.1701C>T ENSP00000400365.2:p.Ile567=
ENST00000617695.4:c.1701C>T ENSP00000481744.1:p.Ile567=
ENST00000618192.4:c.1701C>T ENSP00000480802.1:p.Ile567=
NM_000426.3:c.1701C>T , LRG_409t1:c.1701C>T NP_000417.2:p.Ile567=
NM_001079823.1:c.1701C>T NP_001073291.1:p.Ile567=
XM_005266981.2:c.1701C>T XP_005267038.1:p.Ile567=
XM_005266982.2:c.1701C>T XP_005267039.1:p.Ile567=
XM_011535820.1:c.1701C>T XP_011534122.1:p.Ile567=
XM_005266981.3:c.1701C>T XP_005267038.1:p.Ile567=
XM_005266982.3:c.1701C>T XP_005267039.1:p.Ile567=
XM_011535820.2:c.1701C>T XP_011534122.1:p.Ile567=
XM_017010851.2:c.1707C>T XP_016866340.1:p.Ile569=
XM_017010853.1:c.1701C>T XP_016866342.1:p.Ile567=
NM_000426.4:c.1701C>T MANE Select NP_000417.3:p.Ile567=
NM_001079823.2:c.1701C>T NP_001073291.2:p.Ile567=