Canonical Allele Identifier: CA3994372
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129456459A>G , CM000668.2:g.129456459A>G GRCh38
NC_000006.11:g.129777604A>G , CM000668.1:g.129777604A>G GRCh37
NC_000006.10:g.129819297A>G NCBI36
NG_008678.1:g.578319A>G , LRG_409:g.578319A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.6832A>G ENSP00000481744.2:p.Met2278Val
ENST00000618192.5:c.7096A>G ENSP00000480802.2:p.Met2366Val
ENST00000684985.1:n.463A>G
ENST00000688150.1:n.171A>G
ENST00000421865.3:c.6832A>G MANE Select ENSP00000400365.2:p.Met2278Val
ENST00000421865.2:c.6832A>G ENSP00000400365.2:p.Met2278Val
ENST00000617695.4:c.6832A>G ENSP00000481744.1:p.Met2278Val
ENST00000618192.4:c.6829A>G ENSP00000480802.1:p.Met2277Val
NM_000426.3:c.6832A>G , LRG_409t1:c.6832A>G NP_000417.2:p.Met2278Val
NM_001079823.1:c.6832A>G NP_001073291.1:p.Met2278Val
XM_005266981.2:c.7096A>G XP_005267038.1:p.Met2366Val
XM_005266982.2:c.7096A>G XP_005267039.1:p.Met2366Val
XM_011535820.1:c.7090A>G XP_011534122.1:p.Met2364Val
XM_005266981.3:c.7096A>G XP_005267038.1:p.Met2366Val
XM_005266982.3:c.7096A>G XP_005267039.1:p.Met2366Val
XM_011535820.2:c.7090A>G XP_011534122.1:p.Met2364Val
XM_017010851.2:c.7102A>G XP_016866340.1:p.Met2368Val
XM_017010852.1:c.5227A>G XP_016866341.1:p.Met1743Val
NM_000426.4:c.6832A>G MANE Select NP_000417.3:p.Met2278Val
NM_001079823.2:c.6832A>G NP_001073291.2:p.Met2278Val