Canonical Allele Identifier: CA365628248
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481383T>G , CM000668.2:g.129481383T>G GRCh38
NC_000006.11:g.129802528T>G , CM000668.1:g.129802528T>G GRCh37
NC_000006.10:g.129844221T>G NCBI36
NG_008678.1:g.603243T>G , LRG_409:g.603243T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7681T>G ENSP00000481744.2:p.Leu2561Val
ENST00000618192.5:c.7957T>G ENSP00000480802.2:p.Leu2653Val
ENST00000421865.3:c.7693T>G MANE Select ENSP00000400365.2:p.Leu2565Val
ENST00000421865.2:c.7693T>G ENSP00000400365.2:p.Leu2565Val
ENST00000617695.4:c.7681T>G ENSP00000481744.1:p.Leu2561Val
ENST00000618192.4:c.7690T>G ENSP00000480802.1:p.Leu2564Val
NM_000426.3:c.7693T>G , LRG_409t1:c.7693T>G NP_000417.2:p.Leu2565Val
NM_001079823.1:c.7681T>G NP_001073291.1:p.Leu2561Val
XM_005266981.2:c.7957T>G XP_005267038.1:p.Leu2653Val
XM_005266982.2:c.7945T>G XP_005267039.1:p.Leu2649Val
XM_011535820.1:c.7951T>G XP_011534122.1:p.Leu2651Val
XM_005266981.3:c.7957T>G XP_005267038.1:p.Leu2653Val
XM_005266982.3:c.7945T>G XP_005267039.1:p.Leu2649Val
XM_011535820.2:c.7951T>G XP_011534122.1:p.Leu2651Val
XM_017010851.2:c.7963T>G XP_016866340.1:p.Leu2655Val
XM_017010852.1:c.6088T>G XP_016866341.1:p.Leu2030Val
NM_000426.4:c.7693T>G MANE Select NP_000417.3:p.Leu2565Val
NM_001079823.2:c.7681T>G NP_001073291.2:p.Leu2561Val