Canonical Allele Identifier: CA3992804
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129252238A>G , CM000668.2:g.129252238A>G GRCh38
NC_000006.11:g.129573383A>G , CM000668.1:g.129573383A>G GRCh37
NC_000006.10:g.129615076A>G NCBI36
NG_008678.1:g.374098A>G , LRG_409:g.374098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.2039A>G ENSP00000481744.2:p.Asn680Ser
ENST00000618192.5:c.2039A>G ENSP00000480802.2:p.Asn680Ser
ENST00000421865.3:c.2039A>G MANE Select ENSP00000400365.2:p.Asn680Ser
ENST00000421865.2:c.2039A>G ENSP00000400365.2:p.Asn680Ser
ENST00000617695.4:c.2039A>G ENSP00000481744.1:p.Asn680Ser
ENST00000618192.4:c.2039A>G ENSP00000480802.1:p.Asn680Ser
NM_000426.3:c.2039A>G , LRG_409t1:c.2039A>G NP_000417.2:p.Asn680Ser
NM_001079823.1:c.2039A>G NP_001073291.1:p.Asn680Ser
XM_005266981.2:c.2039A>G XP_005267038.1:p.Asn680Ser
XM_005266982.2:c.2039A>G XP_005267039.1:p.Asn680Ser
XM_011535820.1:c.2039A>G XP_011534122.1:p.Asn680Ser
XM_005266981.3:c.2039A>G XP_005267038.1:p.Asn680Ser
XM_005266982.3:c.2039A>G XP_005267039.1:p.Asn680Ser
XM_011535820.2:c.2039A>G XP_011534122.1:p.Asn680Ser
XM_017010851.2:c.2045A>G XP_016866340.1:p.Asn682Ser
XM_017010852.1:c.170A>G XP_016866341.1:p.Asn57Ser
XM_017010853.1:c.2039A>G XP_016866342.1:p.Asn680Ser
NM_000426.4:c.2039A>G MANE Select NP_000417.3:p.Asn680Ser
NM_001079823.2:c.2039A>G NP_001073291.2:p.Asn680Ser