Canonical Allele Identifier: CA123848
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14299
dbSNP Id: rs121913575

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129353285C>T , CM000668.2:g.129353285C>T GRCh38
NC_000006.11:g.129674430C>T , CM000668.1:g.129674430C>T GRCh37
NC_000006.10:g.129716123C>T NCBI36
NG_008678.1:g.475145C>T , LRG_409:g.475145C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.4645C>T ENSP00000481744.2:p.Arg1549Ter
ENST00000618192.5:c.4909C>T ENSP00000480802.2:p.Arg1637Ter
ENST00000692206.1:n.294C>T
ENST00000693425.1:n.171C>T
ENST00000421865.3:c.4645C>T MANE Select ENSP00000400365.2:p.Arg1549Ter
ENST00000421865.2:c.4645C>T ENSP00000400365.2:p.Arg1549Ter
ENST00000617695.4:c.4645C>T ENSP00000481744.1:p.Arg1549Ter
ENST00000618192.4:c.4645C>T ENSP00000480802.1:p.Arg1549Ter
NM_000426.3:c.4645C>T , LRG_409t1:c.4645C>T NP_000417.2:p.Arg1549Ter
NM_001079823.1:c.4645C>T NP_001073291.1:p.Arg1549Ter
XM_005266981.2:c.4909C>T XP_005267038.1:p.Arg1637Ter
XM_005266982.2:c.4909C>T XP_005267039.1:p.Arg1637Ter
XM_011535820.1:c.4909C>T XP_011534122.1:p.Arg1637Ter
XM_005266981.3:c.4909C>T XP_005267038.1:p.Arg1637Ter
XM_005266982.3:c.4909C>T XP_005267039.1:p.Arg1637Ter
XM_011535820.2:c.4909C>T XP_011534122.1:p.Arg1637Ter
XM_017010851.2:c.4915C>T XP_016866340.1:p.Arg1639Ter
XM_017010852.1:c.3040C>T XP_016866341.1:p.Arg1014Ter
XM_017010853.1:c.4909C>T XP_016866342.1:p.Arg1637Ter
NM_000426.4:c.4645C>T MANE Select NP_000417.3:p.Arg1549Ter
NM_001079823.2:c.4645C>T NP_001073291.2:p.Arg1549Ter