Canonical Allele Identifier: CA3995080
Gene: LAMA2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129516218C>A , CM000668.2:g.129516218C>A GRCh38
NC_000006.11:g.129837363C>A , CM000668.1:g.129837363C>A GRCh37
NC_000006.10:g.129879056C>A NCBI36
NG_008678.1:g.638078C>A , LRG_409:g.638078C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1305C>A ENSP00000510626.1:p.Thr435=
ENST00000498257.6:c.1305C>A ENSP00000510533.1:p.Thr435=
ENST00000617695.5:c.9228C>A ENSP00000481744.2:p.Thr3076=
ENST00000618192.5:c.9504C>A ENSP00000480802.2:p.Thr3168=
ENST00000688198.1:n.2218C>A
ENST00000688799.1:c.1305C>A ENSP00000508458.1:p.Thr435=
ENST00000690858.1:n.4113C>A
ENST00000693461.1:n.1577C>A
ENST00000421865.3:c.9240C>A MANE Select ENSP00000400365.2:p.Thr3080=
ENST00000421865.2:c.9240C>A ENSP00000400365.2:p.Thr3080=
ENST00000617695.4:c.9228C>A ENSP00000481744.1:p.Thr3076=
ENST00000618192.4:c.9237C>A ENSP00000480802.1:p.Thr3079=
NM_000426.3:c.9240C>A , LRG_409t1:c.9240C>A NP_000417.2:p.Thr3080=
NM_001079823.1:c.9228C>A NP_001073291.1:p.Thr3076=
XM_005266981.2:c.9504C>A XP_005267038.1:p.Thr3168=
XM_005266982.2:c.9492C>A XP_005267039.1:p.Thr3164=
XM_011535820.1:c.9498C>A XP_011534122.1:p.Thr3166=
XR_942984.1:n.1460+6259G>T
XR_942985.1:n.1324+6259G>T
XM_005266981.3:c.9504C>A XP_005267038.1:p.Thr3168=
XM_005266982.3:c.9492C>A XP_005267039.1:p.Thr3164=
XM_011535820.2:c.9498C>A XP_011534122.1:p.Thr3166=
XM_017010851.2:c.9510C>A XP_016866340.1:p.Thr3170=
XM_017010852.1:c.7635C>A XP_016866341.1:p.Thr2545=
XR_001743859.1:n.3900+6259G>T
XR_001743860.1:n.1179+6259G>T
XR_001743861.1:n.1346+6259G>T
XR_001743863.1:n.883-13427G>T
XR_002956395.1:n.9131+6259G>T
XR_002956396.1:n.3126+6259G>T
NM_000426.4:c.9240C>A MANE Select NP_000417.3:p.Thr3080=
NM_001079823.2:c.9228C>A NP_001073291.2:p.Thr3076=