Canonical Allele Identifier: CA365619414

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129781452C>G (hg19) ; chr6:g.129460307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460307C>G , CM000668.2:g.129460307C>G	GRCh38
NC_000006.11:g.129781452C>G , CM000668.1:g.129781452C>G	GRCh37
NC_000006.10:g.129823145C>G	NCBI36
NG_008678.1:g.582167C>G , LRG_409:g.582167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6975C>G	ENSP00000481744.2:p.Cys2325Trp
ENST00000618192.5:c.7239C>G	ENSP00000480802.2:p.Cys2413Trp
ENST00000684985.1:n.606C>G
ENST00000688150.1:n.314C>G
ENST00000421865.3:c.6975C>G MANE Select	ENSP00000400365.2:p.Cys2325Trp
ENST00000421865.2:c.6975C>G	ENSP00000400365.2:p.Cys2325Trp
ENST00000617695.4:c.6975C>G	ENSP00000481744.1:p.Cys2325Trp
ENST00000618192.4:c.6972C>G	ENSP00000480802.1:p.Cys2324Trp
NM_000426.3:c.6975C>G , LRG_409t1:c.6975C>G	NP_000417.2:p.Cys2325Trp
NM_001079823.1:c.6975C>G	NP_001073291.1:p.Cys2325Trp
XM_005266981.2:c.7239C>G	XP_005267038.1:p.Cys2413Trp
XM_005266982.2:c.7239C>G	XP_005267039.1:p.Cys2413Trp
XM_011535820.1:c.7233C>G	XP_011534122.1:p.Cys2411Trp
XM_005266981.3:c.7239C>G	XP_005267038.1:p.Cys2413Trp
XM_005266982.3:c.7239C>G	XP_005267039.1:p.Cys2413Trp
XM_011535820.2:c.7233C>G	XP_011534122.1:p.Cys2411Trp
XM_017010851.2:c.7245C>G	XP_016866340.1:p.Cys2415Trp
XM_017010852.1:c.5370C>G	XP_016866341.1:p.Cys1790Trp
NM_000426.4:c.6975C>G MANE Select	NP_000417.3:p.Cys2325Trp
NM_001079823.2:c.6975C>G	NP_001073291.2:p.Cys2325Trp