Canonical Allele Identifier: CA365621511
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465178C>G , CM000668.2:g.129465178C>G GRCh38
NC_000006.11:g.129786323C>G , CM000668.1:g.129786323C>G GRCh37
NC_000006.10:g.129828016C>G NCBI36
NG_008678.1:g.587038C>G , LRG_409:g.587038C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7189C>G ENSP00000481744.2:p.His2397Asp
ENST00000618192.5:c.7453C>G ENSP00000480802.2:p.His2485Asp
ENST00000684985.1:n.820C>G
ENST00000688150.1:n.528C>G
ENST00000421865.3:c.7189C>G MANE Select ENSP00000400365.2:p.His2397Asp
ENST00000421865.2:c.7189C>G ENSP00000400365.2:p.His2397Asp
ENST00000617695.4:c.7189C>G ENSP00000481744.1:p.His2397Asp
ENST00000618192.4:c.7186C>G ENSP00000480802.1:p.His2396Asp
NM_000426.3:c.7189C>G , LRG_409t1:c.7189C>G NP_000417.2:p.His2397Asp
NM_001079823.1:c.7189C>G NP_001073291.1:p.His2397Asp
XM_005266981.2:c.7453C>G XP_005267038.1:p.His2485Asp
XM_005266982.2:c.7453C>G XP_005267039.1:p.His2485Asp
XM_011535820.1:c.7447C>G XP_011534122.1:p.His2483Asp
XM_005266981.3:c.7453C>G XP_005267038.1:p.His2485Asp
XM_005266982.3:c.7453C>G XP_005267039.1:p.His2485Asp
XM_011535820.2:c.7447C>G XP_011534122.1:p.His2483Asp
XM_017010851.2:c.7459C>G XP_016866340.1:p.His2487Asp
XM_017010852.1:c.5584C>G XP_016866341.1:p.His1862Asp
NM_000426.4:c.7189C>G MANE Select NP_000417.3:p.His2397Asp
NM_001079823.2:c.7189C>G NP_001073291.2:p.His2397Asp