Canonical Allele Identifier: CA3994717
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129492013C>A , CM000668.2:g.129492013C>A GRCh38
NC_000006.11:g.129813158C>A , CM000668.1:g.129813158C>A GRCh37
NC_000006.10:g.129854851C>A NCBI36
NG_008678.1:g.613873C>A , LRG_409:g.613873C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.76C>A ENSP00000510626.1:p.Pro26Thr
ENST00000498257.6:c.76C>A ENSP00000510533.1:p.Pro26Thr
ENST00000617695.5:c.7999C>A ENSP00000481744.2:p.Pro2667Thr
ENST00000618192.5:c.8275C>A ENSP00000480802.2:p.Pro2759Thr
ENST00000688198.1:n.989C>A
ENST00000688799.1:c.76C>A ENSP00000508458.1:p.Pro26Thr
ENST00000690858.1:n.1005C>A
ENST00000421865.3:c.8011C>A MANE Select ENSP00000400365.2:p.Pro2671Thr
ENST00000421865.2:c.8011C>A ENSP00000400365.2:p.Pro2671Thr
ENST00000494137.1:n.173C>A
ENST00000498257.5:n.324C>A
ENST00000617695.4:c.7999C>A ENSP00000481744.1:p.Pro2667Thr
ENST00000618192.4:c.8008C>A ENSP00000480802.1:p.Pro2670Thr
NM_000426.3:c.8011C>A , LRG_409t1:c.8011C>A NP_000417.2:p.Pro2671Thr
NM_001079823.1:c.7999C>A NP_001073291.1:p.Pro2667Thr
XM_005266981.2:c.8275C>A XP_005267038.1:p.Pro2759Thr
XM_005266982.2:c.8263C>A XP_005267039.1:p.Pro2755Thr
XM_011535820.1:c.8269C>A XP_011534122.1:p.Pro2757Thr
XM_005266981.3:c.8275C>A XP_005267038.1:p.Pro2759Thr
XM_005266982.3:c.8263C>A XP_005267039.1:p.Pro2755Thr
XM_011535820.2:c.8269C>A XP_011534122.1:p.Pro2757Thr
XM_017010851.2:c.8281C>A XP_016866340.1:p.Pro2761Thr
XM_017010852.1:c.6406C>A XP_016866341.1:p.Pro2136Thr
NM_000426.4:c.8011C>A MANE Select NP_000417.3:p.Pro2671Thr
NM_001079823.2:c.7999C>A NP_001073291.2:p.Pro2667Thr