Canonical Allele Identifier: CA1094400772

Gene: LAMA2

Linked Data

• dbSNP Id: rs1787035821
• gnomAD v3: 6-129515998-C-CCTGT
• gnomAD v4: 6-129515998-C-CCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516001_129516004dup , CM000668.2:g.129516001_129516004dup	GRCh38
NC_000006.11:g.129837146_129837149dup , CM000668.1:g.129837146_129837149dup	GRCh37
NC_000006.10:g.129878839_129878842dup	NCBI36
NG_008678.1:g.637861_637864dup , LRG_409:g.637861_637864dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1277-189_1277-186dup	ENSP00000510626.1:n.1277-189_1277-186dup
ENST00000498257.6:c.1277-189_1277-186dup	ENSP00000510533.1:n.1277-189_1277-186dup
ENST00000617695.5:c.9200-189_9200-186dup	ENSP00000481744.2:n.9200-189_9200-186dup
ENST00000618192.5:c.9476-189_9476-186dup	ENSP00000480802.2:n.9476-189_9476-186dup
ENST00000688198.1:n.2190-189_2190-186dup
ENST00000688799.1:c.1277-189_1277-186dup	ENSP00000508458.1:n.1277-189_1277-186dup
ENST00000690858.1:n.4085-189_4085-186dup
ENST00000693461.1:n.1549-189_1549-186dup
ENST00000421865.3:c.9212-189_9212-186dup MANE Select	ENSP00000400365.2:n.9212-189_9212-186dup
ENST00000421865.2:c.9212-189_9212-186dup	ENSP00000400365.2:n.9212-189_9212-186dup
ENST00000617695.4:c.9200-189_9200-186dup	ENSP00000481744.1:n.9200-189_9200-186dup
ENST00000618192.4:c.9209-189_9209-186dup	ENSP00000480802.1:n.9209-189_9209-186dup
NM_000426.3:c.9212-189_9212-186dup , LRG_409t1:c.9212-189_9212-186dup	NP_000417.2:n.9212-189_9212-186dup
NM_001079823.1:c.9200-189_9200-186dup	NP_001073291.1:n.9200-189_9200-186dup
XM_005266981.2:c.9476-189_9476-186dup	XP_005267038.1:n.9476-189_9476-186dup
XM_005266982.2:c.9464-189_9464-186dup	XP_005267039.1:n.9464-189_9464-186dup
XM_011535820.1:c.9470-189_9470-186dup	XP_011534122.1:n.9470-189_9470-186dup
XR_942984.1:n.1460+6475_1460+6478dup
XR_942985.1:n.1324+6475_1324+6478dup
XM_005266981.3:c.9476-189_9476-186dup	XP_005267038.1:n.9476-189_9476-186dup
XM_005266982.3:c.9464-189_9464-186dup	XP_005267039.1:n.9464-189_9464-186dup
XM_011535820.2:c.9470-189_9470-186dup	XP_011534122.1:n.9470-189_9470-186dup
XM_017010851.2:c.9482-189_9482-186dup	XP_016866340.1:n.9482-189_9482-186dup
XM_017010852.1:c.7607-189_7607-186dup	XP_016866341.1:n.7607-189_7607-186dup
XR_001743859.1:n.3900+6475_3900+6478dup
XR_001743860.1:n.1179+6475_1179+6478dup
XR_001743861.1:n.1346+6475_1346+6478dup
XR_001743863.1:n.883-13211_883-13208dup
XR_002956395.1:n.9131+6475_9131+6478dup
XR_002956396.1:n.3126+6475_3126+6478dup
NM_000426.4:c.9212-189_9212-186dup MANE Select	NP_000417.3:n.9212-189_9212-186dup
NM_001079823.2:c.9200-189_9200-186dup	NP_001073291.2:n.9200-189_9200-186dup