Canonical Allele Identifier: CA365631258
Community Standard Title: NM_000426.4(LAMA2):c.8076-1G>A
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129492314G>A , CM000668.2:g.129492314G>A GRCh38
NC_000006.11:g.129813459G>A , CM000668.1:g.129813459G>A GRCh37
NC_000006.10:g.129855152G>A NCBI36
NG_008678.1:g.614174G>A , LRG_409:g.614174G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.8076-1G>A MANE Select NP_000417.3:n.8076-1G>A
ENST00000421865.3:c.8076-1G>A MANE Select ENSP00000400365.2:n.8076-1G>A
NM_000426.3:c.8076-1G>A , LRG_409t1:c.8076-1G>A NP_000417.2:n.8076-1G>A
NM_001079823.1:c.8064-1G>A NP_001073291.1:n.8064-1G>A
NM_001079823.2:c.8064-1G>A NP_001073291.2:n.8064-1G>A
ENST00000421865.2:c.8076-1G>A ENSP00000400365.2:n.8076-1G>A
ENST00000494137.1:n.238-1G>A
ENST00000494137.2:c.141-1G>A ENSP00000510626.1:n.141-1G>A
ENST00000498257.5:n.389-1G>A
ENST00000498257.6:c.141-1G>A ENSP00000510533.1:n.141-1G>A
ENST00000617695.4:c.8064-1G>A ENSP00000481744.1:n.8064-1G>A
ENST00000617695.5:c.8064-1G>A ENSP00000481744.2:n.8064-1G>A
ENST00000618192.4:c.8073-1G>A ENSP00000480802.1:n.8073-1G>A
ENST00000618192.5:c.8340-1G>A ENSP00000480802.2:n.8340-1G>A
ENST00000688198.1:n.1054-1G>A
ENST00000688799.1:c.141-1G>A ENSP00000508458.1:n.141-1G>A
ENST00000690858.1:n.1070-1G>A
XM_005266981.2:c.8340-1G>A XP_005267038.1:n.8340-1G>A
XM_005266981.3:c.8340-1G>A XP_005267038.1:n.8340-1G>A
XM_005266982.2:c.8328-1G>A XP_005267039.1:n.8328-1G>A
XM_005266982.3:c.8328-1G>A XP_005267039.1:n.8328-1G>A
XM_011535820.1:c.8334-1G>A XP_011534122.1:n.8334-1G>A
XM_011535820.2:c.8334-1G>A XP_011534122.1:n.8334-1G>A
XM_017010851.2:c.8346-1G>A XP_016866340.1:n.8346-1G>A
XM_017010852.1:c.6471-1G>A XP_016866341.1:n.6471-1G>A