Canonical Allele Identifier: CA2680322085

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129516096-T-TTTAATCTCAAGCTAACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516099_129516116dup , CM000668.2:g.129516099_129516116dup	GRCh38
NC_000006.11:g.129837244_129837261dup , CM000668.1:g.129837244_129837261dup	GRCh37
NC_000006.10:g.129878937_129878954dup	NCBI36
NG_008678.1:g.637959_637976dup , LRG_409:g.637959_637976dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1277-91_1277-74dup	ENSP00000510626.1:n.1277-91_1277-74dup
ENST00000498257.6:c.1277-91_1277-74dup	ENSP00000510533.1:n.1277-91_1277-74dup
ENST00000617695.5:c.9200-91_9200-74dup	ENSP00000481744.2:n.9200-91_9200-74dup
ENST00000618192.5:c.9476-91_9476-74dup	ENSP00000480802.2:n.9476-91_9476-74dup
ENST00000688198.1:n.2190-91_2190-74dup
ENST00000688799.1:c.1277-91_1277-74dup	ENSP00000508458.1:n.1277-91_1277-74dup
ENST00000690858.1:n.4085-91_4085-74dup
ENST00000693461.1:n.1549-91_1549-74dup
ENST00000421865.3:c.9212-91_9212-74dup MANE Select	ENSP00000400365.2:n.9212-91_9212-74dup
ENST00000421865.2:c.9212-91_9212-74dup	ENSP00000400365.2:n.9212-91_9212-74dup
ENST00000617695.4:c.9200-91_9200-74dup	ENSP00000481744.1:n.9200-91_9200-74dup
ENST00000618192.4:c.9209-91_9209-74dup	ENSP00000480802.1:n.9209-91_9209-74dup
NM_000426.3:c.9212-91_9212-74dup , LRG_409t1:c.9212-91_9212-74dup	NP_000417.2:n.9212-91_9212-74dup
NM_001079823.1:c.9200-91_9200-74dup	NP_001073291.1:n.9200-91_9200-74dup
XM_005266981.2:c.9476-91_9476-74dup	XP_005267038.1:n.9476-91_9476-74dup
XM_005266982.2:c.9464-91_9464-74dup	XP_005267039.1:n.9464-91_9464-74dup
XM_011535820.1:c.9470-91_9470-74dup	XP_011534122.1:n.9470-91_9470-74dup
XR_942984.1:n.1460+6363_1460+6380dup
XR_942985.1:n.1324+6363_1324+6380dup
XM_005266981.3:c.9476-91_9476-74dup	XP_005267038.1:n.9476-91_9476-74dup
XM_005266982.3:c.9464-91_9464-74dup	XP_005267039.1:n.9464-91_9464-74dup
XM_011535820.2:c.9470-91_9470-74dup	XP_011534122.1:n.9470-91_9470-74dup
XM_017010851.2:c.9482-91_9482-74dup	XP_016866340.1:n.9482-91_9482-74dup
XM_017010852.1:c.7607-91_7607-74dup	XP_016866341.1:n.7607-91_7607-74dup
XR_001743859.1:n.3900+6363_3900+6380dup
XR_001743860.1:n.1179+6363_1179+6380dup
XR_001743861.1:n.1346+6363_1346+6380dup
XR_001743863.1:n.883-13323_883-13306dup
XR_002956395.1:n.9131+6363_9131+6380dup
XR_002956396.1:n.3126+6363_3126+6380dup
NM_000426.4:c.9212-91_9212-74dup MANE Select	NP_000417.3:n.9212-91_9212-74dup
NM_001079823.2:c.9200-91_9200-74dup	NP_001073291.2:n.9200-91_9200-74dup