Canonical Allele Identifier: CA1663192589
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465166C= , CM000668.2:g.129465166C= GRCh38
NC_000006.11:g.129786311C= , CM000668.1:g.129786311C= GRCh37
NC_000006.10:g.129828004C= NCBI36
NG_008678.1:g.587026C= , LRG_409:g.587026C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7177C= ENSP00000481744.2:p.Leu2393=
ENST00000618192.5:c.7441C= ENSP00000480802.2:p.Leu2481=
ENST00000684985.1:n.808C=
ENST00000688150.1:n.516C=
ENST00000421865.3:c.7177C= MANE Select ENSP00000400365.2:p.Leu2393=
ENST00000421865.2:c.7177C= ENSP00000400365.2:p.Leu2393=
ENST00000617695.4:c.7177C= ENSP00000481744.1:p.Leu2393=
ENST00000618192.4:c.7174C= ENSP00000480802.1:p.Leu2392=
NM_000426.3:c.7177C= , LRG_409t1:c.7177C= NP_000417.2:p.Leu2393=
NM_001079823.1:c.7177C= NP_001073291.1:p.Leu2393=
XM_005266981.2:c.7441C= XP_005267038.1:p.Leu2481=
XM_005266982.2:c.7441C= XP_005267039.1:p.Leu2481=
XM_011535820.1:c.7435C= XP_011534122.1:p.Leu2479=
XM_005266981.3:c.7441C= XP_005267038.1:p.Leu2481=
XM_005266982.3:c.7441C= XP_005267039.1:p.Leu2481=
XM_011535820.2:c.7435C= XP_011534122.1:p.Leu2479=
XM_017010851.2:c.7447C= XP_016866340.1:p.Leu2483=
XM_017010852.1:c.5572C= XP_016866341.1:p.Leu1858=
NM_000426.4:c.7177C= MANE Select NP_000417.3:p.Leu2393=
NM_001079823.2:c.7177C= NP_001073291.2:p.Leu2393=