Canonical Allele Identifier: CA2680322040
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129516061_129516063del , CM000668.2:g.129516061_129516063del GRCh38
NC_000006.11:g.129837206_129837208del , CM000668.1:g.129837206_129837208del GRCh37
NC_000006.10:g.129878899_129878901del NCBI36
NG_008678.1:g.637921_637923del , LRG_409:g.637921_637923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1277-129_1277-127del ENSP00000510626.1:n.1277-129_1277-127del
ENST00000498257.6:c.1277-129_1277-127del ENSP00000510533.1:n.1277-129_1277-127del
ENST00000617695.5:c.9200-129_9200-127del ENSP00000481744.2:n.9200-129_9200-127del
ENST00000618192.5:c.9476-129_9476-127del ENSP00000480802.2:n.9476-129_9476-127del
ENST00000688198.1:n.2190-129_2190-127del
ENST00000688799.1:c.1277-129_1277-127del ENSP00000508458.1:n.1277-129_1277-127del
ENST00000690858.1:n.4085-129_4085-127del
ENST00000693461.1:n.1549-129_1549-127del
ENST00000421865.3:c.9212-129_9212-127del MANE Select ENSP00000400365.2:n.9212-129_9212-127del
ENST00000421865.2:c.9212-129_9212-127del ENSP00000400365.2:n.9212-129_9212-127del
ENST00000617695.4:c.9200-129_9200-127del ENSP00000481744.1:n.9200-129_9200-127del
ENST00000618192.4:c.9209-129_9209-127del ENSP00000480802.1:n.9209-129_9209-127del
NM_000426.3:c.9212-129_9212-127del , LRG_409t1:c.9212-129_9212-127del NP_000417.2:n.9212-129_9212-127del
NM_001079823.1:c.9200-129_9200-127del NP_001073291.1:n.9200-129_9200-127del
XM_005266981.2:c.9476-129_9476-127del XP_005267038.1:n.9476-129_9476-127del
XM_005266982.2:c.9464-129_9464-127del XP_005267039.1:n.9464-129_9464-127del
XM_011535820.1:c.9470-129_9470-127del XP_011534122.1:n.9470-129_9470-127del
XR_942984.1:n.1460+6416_1460+6418del
XR_942985.1:n.1324+6416_1324+6418del
XM_005266981.3:c.9476-129_9476-127del XP_005267038.1:n.9476-129_9476-127del
XM_005266982.3:c.9464-129_9464-127del XP_005267039.1:n.9464-129_9464-127del
XM_011535820.2:c.9470-129_9470-127del XP_011534122.1:n.9470-129_9470-127del
XM_017010851.2:c.9482-129_9482-127del XP_016866340.1:n.9482-129_9482-127del
XM_017010852.1:c.7607-129_7607-127del XP_016866341.1:n.7607-129_7607-127del
XR_001743859.1:n.3900+6416_3900+6418del
XR_001743860.1:n.1179+6416_1179+6418del
XR_001743861.1:n.1346+6416_1346+6418del
XR_001743863.1:n.883-13270_883-13268del
XR_002956395.1:n.9131+6416_9131+6418del
XR_002956396.1:n.3126+6416_3126+6418del
NM_000426.4:c.9212-129_9212-127del MANE Select NP_000417.3:n.9212-129_9212-127del
NM_001079823.2:c.9200-129_9200-127del NP_001073291.2:n.9200-129_9200-127del