Canonical Allele Identifier: CA451926487
Gene: LAMA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.129786415G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465270G>A , CM000668.2:g.129465270G>A GRCh38
NC_000006.11:g.129786415G>A , CM000668.1:g.129786415G>A GRCh37
NC_000006.10:g.129828108G>A NCBI36
NG_008678.1:g.587130G>A , LRG_409:g.587130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7281G>A ENSP00000481744.2:p.Leu2427=
ENST00000618192.5:c.7545G>A ENSP00000480802.2:p.Leu2515=
ENST00000684985.1:n.912G>A
ENST00000421865.3:c.7281G>A MANE Select ENSP00000400365.2:p.Leu2427=
ENST00000421865.2:c.7281G>A ENSP00000400365.2:p.Leu2427=
ENST00000617695.4:c.7281G>A ENSP00000481744.1:p.Leu2427=
ENST00000618192.4:c.7278G>A ENSP00000480802.1:p.Leu2426=
NM_000426.3:c.7281G>A , LRG_409t1:c.7281G>A NP_000417.2:p.Leu2427=
NM_001079823.1:c.7281G>A NP_001073291.1:p.Leu2427=
XM_005266981.2:c.7545G>A XP_005267038.1:p.Leu2515=
XM_005266982.2:c.7545G>A XP_005267039.1:p.Leu2515=
XM_011535820.1:c.7539G>A XP_011534122.1:p.Leu2513=
XM_005266981.3:c.7545G>A XP_005267038.1:p.Leu2515=
XM_005266982.3:c.7545G>A XP_005267039.1:p.Leu2515=
XM_011535820.2:c.7539G>A XP_011534122.1:p.Leu2513=
XM_017010851.2:c.7551G>A XP_016866340.1:p.Leu2517=
XM_017010852.1:c.5676G>A XP_016866341.1:p.Leu1892=
NM_000426.4:c.7281G>A MANE Select NP_000417.3:p.Leu2427=
NM_001079823.2:c.7281G>A NP_001073291.2:p.Leu2427=