Canonical Allele Identifier: CA365634951
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129505312T>A , CM000668.2:g.129505312T>A GRCh38
NC_000006.11:g.129826457T>A , CM000668.1:g.129826457T>A GRCh37
NC_000006.10:g.129868150T>A NCBI36
NG_008678.1:g.627172T>A , LRG_409:g.627172T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.725T>A ENSP00000510626.1:p.Val242Asp
ENST00000498257.6:c.725T>A ENSP00000510533.1:p.Val242Asp
ENST00000617695.5:c.8648T>A ENSP00000481744.2:p.Val2883Asp
ENST00000618192.5:c.8924T>A ENSP00000480802.2:p.Val2975Asp
ENST00000688198.1:n.1638T>A
ENST00000688799.1:c.725T>A ENSP00000508458.1:p.Val242Asp
ENST00000690858.1:n.1654T>A
ENST00000693461.1:n.997T>A
ENST00000421865.3:c.8660T>A MANE Select ENSP00000400365.2:p.Val2887Asp
ENST00000421865.2:c.8660T>A ENSP00000400365.2:p.Val2887Asp
ENST00000617695.4:c.8648T>A ENSP00000481744.1:p.Val2883Asp
ENST00000618192.4:c.8657T>A ENSP00000480802.1:p.Val2886Asp
NM_000426.3:c.8660T>A , LRG_409t1:c.8660T>A NP_000417.2:p.Val2887Asp
NM_001079823.1:c.8648T>A NP_001073291.1:p.Val2883Asp
XM_005266981.2:c.8924T>A XP_005267038.1:p.Val2975Asp
XM_005266982.2:c.8912T>A XP_005267039.1:p.Val2971Asp
XM_011535820.1:c.8918T>A XP_011534122.1:p.Val2973Asp
XR_942984.1:n.1461-2521A>T
XR_942985.1:n.1325-2521A>T
XM_005266981.3:c.8924T>A XP_005267038.1:p.Val2975Asp
XM_005266982.3:c.8912T>A XP_005267039.1:p.Val2971Asp
XM_011535820.2:c.8918T>A XP_011534122.1:p.Val2973Asp
XM_017010851.2:c.8930T>A XP_016866340.1:p.Val2977Asp
XM_017010852.1:c.7055T>A XP_016866341.1:p.Val2352Asp
XR_001743859.1:n.3901-2521A>T
XR_001743860.1:n.1180-2521A>T
XR_001743861.1:n.1347-2521A>T
XR_001743863.1:n.883-2521A>T
XR_002956395.1:n.9132-2521A>T
XR_002956396.1:n.3127-2521A>T
NM_000426.4:c.8660T>A MANE Select NP_000417.3:p.Val2887Asp
NM_001079823.2:c.8648T>A NP_001073291.2:p.Val2883Asp