Canonical Allele Identifier: CA365613829
Community Standard Title: NM_000426.4(LAMA2):c.4035T>G (p.Tyr1345Ter)
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129316148T>G , CM000668.2:g.129316148T>G GRCh38
NC_000006.11:g.129637293T>G , CM000668.1:g.129637293T>G GRCh37
NC_000006.10:g.129678986T>G NCBI36
NG_008678.1:g.438008T>G , LRG_409:g.438008T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.4035T>G MANE Select NP_000417.3:p.Tyr1345Ter
ENST00000421865.3:c.4035T>G MANE Select ENSP00000400365.2:p.Tyr1345Ter
NM_000426.3:c.4035T>G , LRG_409t1:c.4035T>G NP_000417.2:p.Tyr1345Ter
NM_001079823.1:c.4035T>G NP_001073291.1:p.Tyr1345Ter
NM_001079823.2:c.4035T>G NP_001073291.2:p.Tyr1345Ter
ENST00000421865.2:c.4035T>G ENSP00000400365.2:p.Tyr1345Ter
ENST00000617695.4:c.4035T>G ENSP00000481744.1:p.Tyr1345Ter
ENST00000617695.5:c.4035T>G ENSP00000481744.2:p.Tyr1345Ter
ENST00000618192.4:c.4035T>G ENSP00000480802.1:p.Tyr1345Ter
ENST00000618192.5:c.4299T>G ENSP00000480802.2:p.Tyr1433Ter
XM_005266981.2:c.4299T>G XP_005267038.1:p.Tyr1433Ter
XM_005266981.3:c.4299T>G XP_005267038.1:p.Tyr1433Ter
XM_005266982.2:c.4299T>G XP_005267039.1:p.Tyr1433Ter
XM_005266982.3:c.4299T>G XP_005267039.1:p.Tyr1433Ter
XM_011535820.1:c.4299T>G XP_011534122.1:p.Tyr1433Ter
XM_011535820.2:c.4299T>G XP_011534122.1:p.Tyr1433Ter
XM_017010851.2:c.4305T>G XP_016866340.1:p.Tyr1435Ter
XM_017010852.1:c.2430T>G XP_016866341.1:p.Tyr810Ter
XM_017010853.1:c.4299T>G XP_016866342.1:p.Tyr1433Ter