Canonical Allele Identifier: CA365605864
Community Standard Title: NM_000426.4(LAMA2):c.640-1G>A
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129143900G>A , CM000668.2:g.129143900G>A GRCh38
NC_000006.11:g.129465045G>A , CM000668.1:g.129465045G>A GRCh37
NC_000006.10:g.129506738G>A NCBI36
NG_008678.1:g.265760G>A , LRG_409:g.265760G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.640-1G>A MANE Select NP_000417.3:n.640-1G>A
ENST00000421865.3:c.640-1G>A MANE Select ENSP00000400365.2:n.640-1G>A
NM_000426.3:c.640-1G>A , LRG_409t1:c.640-1G>A NP_000417.2:n.640-1G>A
NM_001079823.1:c.640-1G>A NP_001073291.1:n.640-1G>A
NM_001079823.2:c.640-1G>A NP_001073291.2:n.640-1G>A
ENST00000421865.2:c.640-1G>A ENSP00000400365.2:n.640-1G>A
ENST00000617695.4:c.640-1G>A ENSP00000481744.1:n.640-1G>A
ENST00000617695.5:c.640-1G>A ENSP00000481744.2:n.640-1G>A
ENST00000618192.4:c.640-1G>A ENSP00000480802.1:n.640-1G>A
ENST00000618192.5:c.640-1G>A ENSP00000480802.2:n.640-1G>A
ENST00000685128.1:n.169-1G>A
ENST00000686577.1:n.706-1G>A
ENST00000686599.1:n.745-1G>A
ENST00000689044.1:n.530-1G>A
ENST00000690881.1:n.103-1G>A
XM_005266981.2:c.640-1G>A XP_005267038.1:n.640-1G>A
XM_005266981.3:c.640-1G>A XP_005267038.1:n.640-1G>A
XM_005266982.2:c.640-1G>A XP_005267039.1:n.640-1G>A
XM_005266982.3:c.640-1G>A XP_005267039.1:n.640-1G>A
XM_011535820.1:c.640-1G>A XP_011534122.1:n.640-1G>A
XM_011535820.2:c.640-1G>A XP_011534122.1:n.640-1G>A
XM_017010851.2:c.646-1G>A XP_016866340.1:n.646-1G>A
XM_017010853.1:c.640-1G>A XP_016866342.1:n.640-1G>A