Canonical Allele Identifier: CA3992917
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.129270662A>C
GRCh37 chr6:g.129591807A>C
Revel Score:
ENST00000358023 0.034
ENST00000354729 0.034
ENST00000421865 (MANE Select) 0.034
gnomAD v2:
6:129591807 A / C
gnomAD v3:
6:129270662 A / C
gnomAD v4:
chr6-129270662-A-C
Joint Max Group AF 0.00015414 (EAS)
Genomes Max Group AF 0.00016906 (SAS)
Exomes Max Group AF 0.00015511 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129270662A>C , CM000668.2:g.129270662A>C GRCh38
NC_000006.11:g.129591807A>C , CM000668.1:g.129591807A>C GRCh37
NC_000006.10:g.129633500A>C NCBI36
NG_008678.1:g.392522A>C , LRG_409:g.392522A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.2361A>C ENSP00000481744.2:p.Lys787Asn
ENST00000618192.5:c.2361A>C ENSP00000480802.2:p.Lys787Asn
ENST00000421865.3:c.2361A>C MANE Select ENSP00000400365.2:p.Lys787Asn
ENST00000421865.2:c.2361A>C ENSP00000400365.2:p.Lys787Asn
ENST00000617695.4:c.2361A>C ENSP00000481744.1:p.Lys787Asn
ENST00000618192.4:c.2361A>C ENSP00000480802.1:p.Lys787Asn
NM_000426.3:c.2361A>C , LRG_409t1:c.2361A>C NP_000417.2:p.Lys787Asn
NM_001079823.1:c.2361A>C NP_001073291.1:p.Lys787Asn
XM_005266981.2:c.2361A>C XP_005267038.1:p.Lys787Asn
XM_005266982.2:c.2361A>C XP_005267039.1:p.Lys787Asn
XM_011535820.1:c.2361A>C XP_011534122.1:p.Lys787Asn
XM_005266981.3:c.2361A>C XP_005267038.1:p.Lys787Asn
XM_005266982.3:c.2361A>C XP_005267039.1:p.Lys787Asn
XM_011535820.2:c.2361A>C XP_011534122.1:p.Lys787Asn
XM_017010851.2:c.2367A>C XP_016866340.1:p.Lys789Asn
XM_017010852.1:c.492A>C XP_016866341.1:p.Lys164Asn
XM_017010853.1:c.2361A>C XP_016866342.1:p.Lys787Asn
NM_000426.4:c.2361A>C MANE Select NP_000417.3:p.Lys787Asn
NM_001079823.2:c.2361A>C NP_001073291.2:p.Lys787Asn
Search 100 bp 5'
Search 100 bp 3'