Canonical Allele Identifier: CA451925526
Gene: LAMA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.129663535T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129342390T>G , CM000668.2:g.129342390T>G GRCh38
NC_000006.11:g.129663535T>G , CM000668.1:g.129663535T>G GRCh37
NC_000006.10:g.129705228T>G NCBI36
NG_008678.1:g.464250T>G , LRG_409:g.464250T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.4359T>G ENSP00000481744.2:p.Leu1453=
ENST00000618192.5:c.4623T>G ENSP00000480802.2:p.Leu1541=
ENST00000692206.1:n.8T>G
ENST00000421865.3:c.4359T>G MANE Select ENSP00000400365.2:p.Leu1453=
ENST00000421865.2:c.4359T>G ENSP00000400365.2:p.Leu1453=
ENST00000617695.4:c.4359T>G ENSP00000481744.1:p.Leu1453=
ENST00000618192.4:c.4359T>G ENSP00000480802.1:p.Leu1453=
NM_000426.3:c.4359T>G , LRG_409t1:c.4359T>G NP_000417.2:p.Leu1453=
NM_001079823.1:c.4359T>G NP_001073291.1:p.Leu1453=
XM_005266981.2:c.4623T>G XP_005267038.1:p.Leu1541=
XM_005266982.2:c.4623T>G XP_005267039.1:p.Leu1541=
XM_011535820.1:c.4623T>G XP_011534122.1:p.Leu1541=
XM_005266981.3:c.4623T>G XP_005267038.1:p.Leu1541=
XM_005266982.3:c.4623T>G XP_005267039.1:p.Leu1541=
XM_011535820.2:c.4623T>G XP_011534122.1:p.Leu1541=
XM_017010851.2:c.4629T>G XP_016866340.1:p.Leu1543=
XM_017010852.1:c.2754T>G XP_016866341.1:p.Leu918=
XM_017010853.1:c.4623T>G XP_016866342.1:p.Leu1541=
NM_000426.4:c.4359T>G MANE Select NP_000417.3:p.Leu1453=
NM_001079823.2:c.4359T>G NP_001073291.2:p.Leu1453=