Canonical Allele Identifier: CA3992240
Community Standard Title: NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu)
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129049981G>A , CM000668.2:g.129049981G>A GRCh38
NC_000006.11:g.129371126G>A , CM000668.1:g.129371126G>A GRCh37
NC_000006.10:g.129412819G>A NCBI36
NG_008678.1:g.171841G>A , LRG_409:g.171841G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.176G>A MANE Select NP_000417.3:p.Gly59Glu
ENST00000421865.3:c.176G>A MANE Select ENSP00000400365.2:p.Gly59Glu
NM_000426.3:c.176G>A , LRG_409t1:c.176G>A NP_000417.2:p.Gly59Glu
NM_001079823.1:c.176G>A NP_001073291.1:p.Gly59Glu
NM_001079823.2:c.176G>A NP_001073291.2:p.Gly59Glu
ENST00000421865.2:c.176G>A ENSP00000400365.2:p.Gly59Glu
ENST00000466230.1:n.288G>A
ENST00000466230.2:c.407G>A ENSP00000509691.1:n.407G>A
ENST00000617695.4:c.176G>A ENSP00000481744.1:p.Gly59Glu
ENST00000617695.5:c.176G>A ENSP00000481744.2:p.Gly59Glu
ENST00000618192.4:c.176G>A ENSP00000480802.1:p.Gly59Glu
ENST00000618192.5:c.176G>A ENSP00000480802.2:p.Gly59Glu
ENST00000686577.1:n.242G>A
ENST00000686599.1:n.281G>A
ENST00000689044.1:n.66G>A
XM_005266981.2:c.176G>A XP_005267038.1:p.Gly59Glu
XM_005266981.3:c.176G>A XP_005267038.1:p.Gly59Glu
XM_005266982.2:c.176G>A XP_005267039.1:p.Gly59Glu
XM_005266982.3:c.176G>A XP_005267039.1:p.Gly59Glu
XM_011535820.1:c.176G>A XP_011534122.1:p.Gly59Glu
XM_011535820.2:c.176G>A XP_011534122.1:p.Gly59Glu
XM_017010851.2:c.182G>A XP_016866340.1:p.Gly61Glu
XM_017010853.1:c.176G>A XP_016866342.1:p.Gly59Glu