Canonical Allele Identifier: CA3994629
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.129481330G>A
GRCh37 chr6:g.129802475G>A
Revel Score:
ENST00000358023 0.436
ENST00000354729 0.436
ENST00000421865 (MANE Select) 0.436
ENST00000443169 0.436
gnomAD v2:
6:129802475 G / A
gnomAD v3:
6:129481330 G / A
gnomAD v4:
chr6-129481330-G-A
Joint Max Group AF 0.00537813 (AFR)
Genomes Max Group AF 0.00472666 (AFR)
Exomes Max Group AF 0.00577771 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481330G>A , CM000668.2:g.129481330G>A GRCh38
NC_000006.11:g.129802475G>A , CM000668.1:g.129802475G>A GRCh37
NC_000006.10:g.129844168G>A NCBI36
NG_008678.1:g.603190G>A , LRG_409:g.603190G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7628G>A ENSP00000481744.2:p.Gly2543Glu
ENST00000618192.5:c.7904G>A ENSP00000480802.2:p.Gly2635Glu
ENST00000421865.3:c.7640G>A MANE Select ENSP00000400365.2:p.Gly2547Glu
ENST00000421865.2:c.7640G>A ENSP00000400365.2:p.Gly2547Glu
ENST00000617695.4:c.7628G>A ENSP00000481744.1:p.Gly2543Glu
ENST00000618192.4:c.7637G>A ENSP00000480802.1:p.Gly2546Glu
NM_000426.3:c.7640G>A , LRG_409t1:c.7640G>A NP_000417.2:p.Gly2547Glu
NM_001079823.1:c.7628G>A NP_001073291.1:p.Gly2543Glu
XM_005266981.2:c.7904G>A XP_005267038.1:p.Gly2635Glu
XM_005266982.2:c.7892G>A XP_005267039.1:p.Gly2631Glu
XM_011535820.1:c.7898G>A XP_011534122.1:p.Gly2633Glu
XM_005266981.3:c.7904G>A XP_005267038.1:p.Gly2635Glu
XM_005266982.3:c.7892G>A XP_005267039.1:p.Gly2631Glu
XM_011535820.2:c.7898G>A XP_011534122.1:p.Gly2633Glu
XM_017010851.2:c.7910G>A XP_016866340.1:p.Gly2637Glu
XM_017010852.1:c.6035G>A XP_016866341.1:p.Gly2012Glu
NM_000426.4:c.7640G>A MANE Select NP_000417.3:p.Gly2547Glu
NM_001079823.2:c.7628G>A NP_001073291.2:p.Gly2543Glu
Search 100 bp 5'
Search 100 bp 3'