Canonical Allele Identifier: CA365628393
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481420A>T , CM000668.2:g.129481420A>T GRCh38
NC_000006.11:g.129802565A>T , CM000668.1:g.129802565A>T GRCh37
NC_000006.10:g.129844258A>T NCBI36
NG_008678.1:g.603280A>T , LRG_409:g.603280A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7718A>T ENSP00000481744.2:p.Lys2573Ile
ENST00000618192.5:c.7994A>T ENSP00000480802.2:p.Lys2665Ile
ENST00000421865.3:c.7730A>T MANE Select ENSP00000400365.2:p.Lys2577Ile
ENST00000421865.2:c.7730A>T ENSP00000400365.2:p.Lys2577Ile
ENST00000617695.4:c.7718A>T ENSP00000481744.1:p.Lys2573Ile
ENST00000618192.4:c.7727A>T ENSP00000480802.1:p.Lys2576Ile
NM_000426.3:c.7730A>T , LRG_409t1:c.7730A>T NP_000417.2:p.Lys2577Ile
NM_001079823.1:c.7718A>T NP_001073291.1:p.Lys2573Ile
XM_005266981.2:c.7994A>T XP_005267038.1:p.Lys2665Ile
XM_005266982.2:c.7982A>T XP_005267039.1:p.Lys2661Ile
XM_011535820.1:c.7988A>T XP_011534122.1:p.Lys2663Ile
XM_005266981.3:c.7994A>T XP_005267038.1:p.Lys2665Ile
XM_005266982.3:c.7982A>T XP_005267039.1:p.Lys2661Ile
XM_011535820.2:c.7988A>T XP_011534122.1:p.Lys2663Ile
XM_017010851.2:c.8000A>T XP_016866340.1:p.Lys2667Ile
XM_017010852.1:c.6125A>T XP_016866341.1:p.Lys2042Ile
NM_000426.4:c.7730A>T MANE Select NP_000417.3:p.Lys2577Ile
NM_001079823.2:c.7718A>T NP_001073291.2:p.Lys2573Ile