Canonical Allele Identifier: CA365630353
Community Standard Title: NM_000426.4(LAMA2):c.7899-1G>C
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129491900G>C , CM000668.2:g.129491900G>C GRCh38
NC_000006.11:g.129813045G>C , CM000668.1:g.129813045G>C GRCh37
NC_000006.10:g.129854738G>C NCBI36
NG_008678.1:g.613760G>C , LRG_409:g.613760G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.7899-1G>C MANE Select NP_000417.3:n.7899-1G>C
ENST00000421865.3:c.7899-1G>C MANE Select ENSP00000400365.2:n.7899-1G>C
NM_000426.3:c.7899-1G>C , LRG_409t1:c.7899-1G>C NP_000417.2:n.7899-1G>C
NM_001079823.1:c.7887-1G>C NP_001073291.1:n.7887-1G>C
NM_001079823.2:c.7887-1G>C NP_001073291.2:n.7887-1G>C
ENST00000421865.2:c.7899-1G>C ENSP00000400365.2:n.7899-1G>C
ENST00000494137.1:n.61-1G>C
ENST00000494137.2:c.-37-1G>C ENSP00000510626.1:n.-37-1G>C
ENST00000498257.5:n.212-1G>C
ENST00000498257.6:c.-37-1G>C ENSP00000510533.1:n.-37-1G>C
ENST00000617695.4:c.7887-1G>C ENSP00000481744.1:n.7887-1G>C
ENST00000617695.5:c.7887-1G>C ENSP00000481744.2:n.7887-1G>C
ENST00000618192.4:c.7896-1G>C ENSP00000480802.1:n.7896-1G>C
ENST00000618192.5:c.8163-1G>C ENSP00000480802.2:n.8163-1G>C
ENST00000688198.1:n.877-1G>C
ENST00000688799.1:c.-37-1G>C ENSP00000508458.1:n.-37-1G>C
ENST00000690858.1:n.892G>C
XM_005266981.2:c.8163-1G>C XP_005267038.1:n.8163-1G>C
XM_005266981.3:c.8163-1G>C XP_005267038.1:n.8163-1G>C
XM_005266982.2:c.8151-1G>C XP_005267039.1:n.8151-1G>C
XM_005266982.3:c.8151-1G>C XP_005267039.1:n.8151-1G>C
XM_011535820.1:c.8157-1G>C XP_011534122.1:n.8157-1G>C
XM_011535820.2:c.8157-1G>C XP_011534122.1:n.8157-1G>C
XM_017010851.2:c.8169-1G>C XP_016866340.1:n.8169-1G>C
XM_017010852.1:c.6294-1G>C XP_016866341.1:n.6294-1G>C