Canonical Allele Identifier: CA16618243
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422392
ClinVar RCV Id: RCV000480247
dbSNP Id: rs1064795750

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129503185C>G , CM000668.2:g.129503185C>G GRCh38
NC_000006.11:g.129824330C>G , CM000668.1:g.129824330C>G GRCh37
NC_000006.10:g.129866023C>G NCBI36
NG_008678.1:g.625045C>G , LRG_409:g.625045C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000494137.2:c.517C>G ENSP00000510626.1:p.Leu173Val
ENST00000498257.6:c.517C>G ENSP00000510533.1:p.Leu173Val
ENST00000617695.5:c.8440C>G ENSP00000481744.2:p.Leu2814Val
ENST00000618192.5:c.8716C>G ENSP00000480802.2:p.Leu2906Val
ENST00000688198.1:n.1430C>G
ENST00000688799.1:c.517C>G ENSP00000508458.1:p.Leu173Val
ENST00000690858.1:n.1446C>G
ENST00000693461.1:n.789C>G
ENST00000421865.3:c.8452C>G MANE Select ENSP00000400365.2:p.Leu2818Val
ENST00000421865.2:c.8452C>G ENSP00000400365.2:p.Leu2818Val
ENST00000617695.4:c.8440C>G ENSP00000481744.1:p.Leu2814Val
ENST00000618192.4:c.8449C>G ENSP00000480802.1:p.Leu2817Val
NM_000426.3:c.8452C>G , LRG_409t1:c.8452C>G NP_000417.2:p.Leu2818Val
NM_001079823.1:c.8440C>G NP_001073291.1:p.Leu2814Val
XM_005266981.2:c.8716C>G XP_005267038.1:p.Leu2906Val
XM_005266982.2:c.8704C>G XP_005267039.1:p.Leu2902Val
XM_011535820.1:c.8710C>G XP_011534122.1:p.Leu2904Val
XR_942984.1:n.1461-394G>C
XR_942985.1:n.1325-394G>C
XM_005266981.3:c.8716C>G XP_005267038.1:p.Leu2906Val
XM_005266982.3:c.8704C>G XP_005267039.1:p.Leu2902Val
XM_011535820.2:c.8710C>G XP_011534122.1:p.Leu2904Val
XM_017010851.2:c.8722C>G XP_016866340.1:p.Leu2908Val
XM_017010852.1:c.6847C>G XP_016866341.1:p.Leu2283Val
XR_001743859.1:n.3901-394G>C
XR_001743860.1:n.1180-394G>C
XR_001743861.1:n.1347-394G>C
XR_001743863.1:n.883-394G>C
XR_002956395.1:n.9132-394G>C
XR_002956396.1:n.3127-394G>C
NM_000426.4:c.8452C>G MANE Select NP_000417.3:p.Leu2818Val
NM_001079823.2:c.8440C>G NP_001073291.2:p.Leu2814Val