Canonical Allele Identifier: CA3995006
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129514361C>G , CM000668.2:g.129514361C>G GRCh38
NC_000006.11:g.129835506C>G , CM000668.1:g.129835506C>G GRCh37
NC_000006.10:g.129877199C>G NCBI36
NG_008678.1:g.636221C>G , LRG_409:g.636221C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1054-12C>G ENSP00000510626.1:n.1054-12C>G
ENST00000498257.6:c.1054-12C>G ENSP00000510533.1:n.1054-12C>G
ENST00000617695.5:c.8977-12C>G ENSP00000481744.2:n.8977-12C>G
ENST00000618192.5:c.9253-12C>G ENSP00000480802.2:n.9253-12C>G
ENST00000688198.1:n.1967-12C>G
ENST00000688799.1:c.1054-12C>G ENSP00000508458.1:n.1054-12C>G
ENST00000690858.1:n.3850C>G
ENST00000693461.1:n.1326-12C>G
ENST00000421865.3:c.8989-12C>G MANE Select ENSP00000400365.2:n.8989-12C>G
ENST00000421865.2:c.8989-12C>G ENSP00000400365.2:n.8989-12C>G
ENST00000617695.4:c.8977-12C>G ENSP00000481744.1:n.8977-12C>G
ENST00000618192.4:c.8986-12C>G ENSP00000480802.1:n.8986-12C>G
NM_000426.3:c.8989-12C>G , LRG_409t1:c.8989-12C>G NP_000417.2:n.8989-12C>G
NM_001079823.1:c.8977-12C>G NP_001073291.1:n.8977-12C>G
XM_005266981.2:c.9253-12C>G XP_005267038.1:n.9253-12C>G
XM_005266982.2:c.9241-12C>G XP_005267039.1:n.9241-12C>G
XM_011535820.1:c.9247-12C>G XP_011534122.1:n.9247-12C>G
XR_942984.1:n.1460+8116G>C
XR_942985.1:n.1324+8116G>C
XM_005266981.3:c.9253-12C>G XP_005267038.1:n.9253-12C>G
XM_005266982.3:c.9241-12C>G XP_005267039.1:n.9241-12C>G
XM_011535820.2:c.9247-12C>G XP_011534122.1:n.9247-12C>G
XM_017010851.2:c.9259-12C>G XP_016866340.1:n.9259-12C>G
XM_017010852.1:c.7384-12C>G XP_016866341.1:n.7384-12C>G
XR_001743859.1:n.3900+8116G>C
XR_001743860.1:n.1179+8116G>C
XR_001743861.1:n.1346+8116G>C
XR_001743863.1:n.883-11570G>C
XR_002956395.1:n.9131+8116G>C
XR_002956396.1:n.3126+8116G>C
NM_000426.4:c.8989-12C>G MANE Select NP_000417.3:n.8989-12C>G
NM_001079823.2:c.8977-12C>G NP_001073291.2:n.8977-12C>G