Canonical Allele Identifier: CA365634888
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129505282A>G , CM000668.2:g.129505282A>G GRCh38
NC_000006.11:g.129826427A>G , CM000668.1:g.129826427A>G GRCh37
NC_000006.10:g.129868120A>G NCBI36
NG_008678.1:g.627142A>G , LRG_409:g.627142A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.695A>G ENSP00000510626.1:p.Asp232Gly
ENST00000498257.6:c.695A>G ENSP00000510533.1:p.Asp232Gly
ENST00000617695.5:c.8618A>G ENSP00000481744.2:p.Asp2873Gly
ENST00000618192.5:c.8894A>G ENSP00000480802.2:p.Asp2965Gly
ENST00000688198.1:n.1608A>G
ENST00000688799.1:c.695A>G ENSP00000508458.1:p.Asp232Gly
ENST00000690858.1:n.1624A>G
ENST00000693461.1:n.967A>G
ENST00000421865.3:c.8630A>G MANE Select ENSP00000400365.2:p.Asp2877Gly
ENST00000421865.2:c.8630A>G ENSP00000400365.2:p.Asp2877Gly
ENST00000617695.4:c.8618A>G ENSP00000481744.1:p.Asp2873Gly
ENST00000618192.4:c.8627A>G ENSP00000480802.1:p.Asp2876Gly
NM_000426.3:c.8630A>G , LRG_409t1:c.8630A>G NP_000417.2:p.Asp2877Gly
NM_001079823.1:c.8618A>G NP_001073291.1:p.Asp2873Gly
XM_005266981.2:c.8894A>G XP_005267038.1:p.Asp2965Gly
XM_005266982.2:c.8882A>G XP_005267039.1:p.Asp2961Gly
XM_011535820.1:c.8888A>G XP_011534122.1:p.Asp2963Gly
XR_942984.1:n.1461-2491T>C
XR_942985.1:n.1325-2491T>C
XM_005266981.3:c.8894A>G XP_005267038.1:p.Asp2965Gly
XM_005266982.3:c.8882A>G XP_005267039.1:p.Asp2961Gly
XM_011535820.2:c.8888A>G XP_011534122.1:p.Asp2963Gly
XM_017010851.2:c.8900A>G XP_016866340.1:p.Asp2967Gly
XM_017010852.1:c.7025A>G XP_016866341.1:p.Asp2342Gly
XR_001743859.1:n.3901-2491T>C
XR_001743860.1:n.1180-2491T>C
XR_001743861.1:n.1347-2491T>C
XR_001743863.1:n.883-2491T>C
XR_002956395.1:n.9132-2491T>C
XR_002956396.1:n.3127-2491T>C
NM_000426.4:c.8630A>G MANE Select NP_000417.3:p.Asp2877Gly
NM_001079823.2:c.8618A>G NP_001073291.2:p.Asp2873Gly