Canonical Allele Identifier: CA3994486

Gene: LAMA2

Linked Data

• dbSNP Id: rs777910444
• ExAC: 6:129786344 C / G
• gnomAD v2: 6-129786344-C-G
• gnomAD v3: 6-129465199-C-G
• gnomAD v4: 6-129465199-C-G
• MyVariant Identifiers: chr6:g.129786344C>G (hg19) ; chr6:g.129465199C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465199C>G , CM000668.2:g.129465199C>G	GRCh38
NC_000006.11:g.129786344C>G , CM000668.1:g.129786344C>G	GRCh37
NC_000006.10:g.129828037C>G	NCBI36
NG_008678.1:g.587059C>G , LRG_409:g.587059C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7210C>G	ENSP00000481744.2:p.Leu2404Val
ENST00000618192.5:c.7474C>G	ENSP00000480802.2:p.Leu2492Val
ENST00000684985.1:n.841C>G
ENST00000688150.1:n.549C>G
ENST00000421865.3:c.7210C>G MANE Select	ENSP00000400365.2:p.Leu2404Val
ENST00000421865.2:c.7210C>G	ENSP00000400365.2:p.Leu2404Val
ENST00000617695.4:c.7210C>G	ENSP00000481744.1:p.Leu2404Val
ENST00000618192.4:c.7207C>G	ENSP00000480802.1:p.Leu2403Val
NM_000426.3:c.7210C>G , LRG_409t1:c.7210C>G	NP_000417.2:p.Leu2404Val
NM_001079823.1:c.7210C>G	NP_001073291.1:p.Leu2404Val
XM_005266981.2:c.7474C>G	XP_005267038.1:p.Leu2492Val
XM_005266982.2:c.7474C>G	XP_005267039.1:p.Leu2492Val
XM_011535820.1:c.7468C>G	XP_011534122.1:p.Leu2490Val
XM_005266981.3:c.7474C>G	XP_005267038.1:p.Leu2492Val
XM_005266982.3:c.7474C>G	XP_005267039.1:p.Leu2492Val
XM_011535820.2:c.7468C>G	XP_011534122.1:p.Leu2490Val
XM_017010851.2:c.7480C>G	XP_016866340.1:p.Leu2494Val
XM_017010852.1:c.5605C>G	XP_016866341.1:p.Leu1869Val
NM_000426.4:c.7210C>G MANE Select	NP_000417.3:p.Leu2404Val
NM_001079823.2:c.7210C>G	NP_001073291.2:p.Leu2404Val