Canonical Allele Identifier: CA365609134
Community Standard Title: NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129270696G>T , CM000668.2:g.129270696G>T GRCh38
NC_000006.11:g.129591841G>T , CM000668.1:g.129591841G>T GRCh37
NC_000006.10:g.129633534G>T NCBI36
NG_008678.1:g.392556G>T , LRG_409:g.392556G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.2395G>T MANE Select NP_000417.3:p.Gly799Ter
ENST00000421865.3:c.2395G>T MANE Select ENSP00000400365.2:p.Gly799Ter
NM_000426.3:c.2395G>T , LRG_409t1:c.2395G>T NP_000417.2:p.Gly799Ter
NM_001079823.1:c.2395G>T NP_001073291.1:p.Gly799Ter
NM_001079823.2:c.2395G>T NP_001073291.2:p.Gly799Ter
ENST00000421865.2:c.2395G>T ENSP00000400365.2:p.Gly799Ter
ENST00000617695.4:c.2395G>T ENSP00000481744.1:p.Gly799Ter
ENST00000617695.5:c.2395G>T ENSP00000481744.2:p.Gly799Ter
ENST00000618192.4:c.2395G>T ENSP00000480802.1:p.Gly799Ter
ENST00000618192.5:c.2395G>T ENSP00000480802.2:p.Gly799Ter
XM_005266981.2:c.2395G>T XP_005267038.1:p.Gly799Ter
XM_005266981.3:c.2395G>T XP_005267038.1:p.Gly799Ter
XM_005266982.2:c.2395G>T XP_005267039.1:p.Gly799Ter
XM_005266982.3:c.2395G>T XP_005267039.1:p.Gly799Ter
XM_011535820.1:c.2395G>T XP_011534122.1:p.Gly799Ter
XM_011535820.2:c.2395G>T XP_011534122.1:p.Gly799Ter
XM_017010851.2:c.2401G>T XP_016866340.1:p.Gly801Ter
XM_017010852.1:c.526G>T XP_016866341.1:p.Gly176Ter
XM_017010853.1:c.2395G>T XP_016866342.1:p.Gly799Ter