Canonical Allele Identifier: CA146928146
Gene: LAMA2 HGNC NCBI

Linked Data

dbSNP Id: rs896885302
MyVariant Identifiers: chr6:g.129516070T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129516070T>C , CM000668.2:g.129516070T>C GRCh38
NC_000006.11:g.129837215T>C , CM000668.1:g.129837215T>C GRCh37
NC_000006.10:g.129878908T>C NCBI36
NG_008678.1:g.637930T>C , LRG_409:g.637930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1277-120T>C ENSP00000510626.1:n.1277-120T>C
ENST00000498257.6:c.1277-120T>C ENSP00000510533.1:n.1277-120T>C
ENST00000617695.5:c.9200-120T>C ENSP00000481744.2:n.9200-120T>C
ENST00000618192.5:c.9476-120T>C ENSP00000480802.2:n.9476-120T>C
ENST00000688198.1:n.2190-120T>C
ENST00000688799.1:c.1277-120T>C ENSP00000508458.1:n.1277-120T>C
ENST00000690858.1:n.4085-120T>C
ENST00000693461.1:n.1549-120T>C
ENST00000421865.3:c.9212-120T>C MANE Select ENSP00000400365.2:n.9212-120T>C
ENST00000421865.2:c.9212-120T>C ENSP00000400365.2:n.9212-120T>C
ENST00000617695.4:c.9200-120T>C ENSP00000481744.1:n.9200-120T>C
ENST00000618192.4:c.9209-120T>C ENSP00000480802.1:n.9209-120T>C
NM_000426.3:c.9212-120T>C , LRG_409t1:c.9212-120T>C NP_000417.2:n.9212-120T>C
NM_001079823.1:c.9200-120T>C NP_001073291.1:n.9200-120T>C
XM_005266981.2:c.9476-120T>C XP_005267038.1:n.9476-120T>C
XM_005266982.2:c.9464-120T>C XP_005267039.1:n.9464-120T>C
XM_011535820.1:c.9470-120T>C XP_011534122.1:n.9470-120T>C
XR_942984.1:n.1460+6407A>G
XR_942985.1:n.1324+6407A>G
XM_005266981.3:c.9476-120T>C XP_005267038.1:n.9476-120T>C
XM_005266982.3:c.9464-120T>C XP_005267039.1:n.9464-120T>C
XM_011535820.2:c.9470-120T>C XP_011534122.1:n.9470-120T>C
XM_017010851.2:c.9482-120T>C XP_016866340.1:n.9482-120T>C
XM_017010852.1:c.7607-120T>C XP_016866341.1:n.7607-120T>C
XR_001743859.1:n.3900+6407A>G
XR_001743860.1:n.1179+6407A>G
XR_001743861.1:n.1346+6407A>G
XR_001743863.1:n.883-13279A>G
XR_002956395.1:n.9131+6407A>G
XR_002956396.1:n.3126+6407A>G
NM_000426.4:c.9212-120T>C MANE Select NP_000417.3:n.9212-120T>C
NM_001079823.2:c.9200-120T>C NP_001073291.2:n.9200-120T>C