Canonical Allele Identifier: CA365607160
Community Standard Title: NM_000426.4(LAMA2):c.1207-2A>G
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129165574A>G , CM000668.2:g.129165574A>G GRCh38
NC_000006.11:g.129486719A>G , CM000668.1:g.129486719A>G GRCh37
NC_000006.10:g.129528412A>G NCBI36
NG_008678.1:g.287434A>G , LRG_409:g.287434A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.1207-2A>G MANE Select NP_000417.3:n.1207-2A>G
ENST00000421865.3:c.1207-2A>G MANE Select ENSP00000400365.2:n.1207-2A>G
NM_000426.3:c.1207-2A>G , LRG_409t1:c.1207-2A>G NP_000417.2:n.1207-2A>G
NM_001079823.1:c.1207-2A>G NP_001073291.1:n.1207-2A>G
NM_001079823.2:c.1207-2A>G NP_001073291.2:n.1207-2A>G
ENST00000421865.2:c.1207-2A>G ENSP00000400365.2:n.1207-2A>G
ENST00000617695.4:c.1207-2A>G ENSP00000481744.1:n.1207-2A>G
ENST00000617695.5:c.1207-2A>G ENSP00000481744.2:n.1207-2A>G
ENST00000618192.4:c.1207-2A>G ENSP00000480802.1:n.1207-2A>G
ENST00000618192.5:c.1207-2A>G ENSP00000480802.2:n.1207-2A>G
ENST00000685128.1:n.736-2A>G
ENST00000686577.1:n.1273-2A>G
ENST00000686599.1:n.1312-2A>G
ENST00000690881.1:n.670-2A>G
XM_005266981.2:c.1207-2A>G XP_005267038.1:n.1207-2A>G
XM_005266981.3:c.1207-2A>G XP_005267038.1:n.1207-2A>G
XM_005266982.2:c.1207-2A>G XP_005267039.1:n.1207-2A>G
XM_005266982.3:c.1207-2A>G XP_005267039.1:n.1207-2A>G
XM_011535820.1:c.1207-2A>G XP_011534122.1:n.1207-2A>G
XM_011535820.2:c.1207-2A>G XP_011534122.1:n.1207-2A>G
XM_017010851.2:c.1213-2A>G XP_016866340.1:n.1213-2A>G
XM_017010853.1:c.1207-2A>G XP_016866342.1:n.1207-2A>G