Canonical Allele Identifier: CA3994427

Gene: LAMA2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464354C>T , CM000668.2:g.129464354C>T	GRCh38
NC_000006.11:g.129785499C>T , CM000668.1:g.129785499C>T	GRCh37
NC_000006.10:g.129827192C>T	NCBI36
NG_008678.1:g.586214C>T , LRG_409:g.586214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7057C>T	ENSP00000481744.2:p.Arg2353Cys
ENST00000618192.5:c.7321C>T	ENSP00000480802.2:p.Arg2441Cys
ENST00000684985.1:n.688C>T
ENST00000688150.1:n.396C>T
ENST00000421865.3:c.7057C>T MANE Select	ENSP00000400365.2:p.Arg2353Cys
ENST00000421865.2:c.7057C>T	ENSP00000400365.2:p.Arg2353Cys
ENST00000617695.4:c.7057C>T	ENSP00000481744.1:p.Arg2353Cys
ENST00000618192.4:c.7054C>T	ENSP00000480802.1:p.Arg2352Cys
NM_000426.3:c.7057C>T , LRG_409t1:c.7057C>T	NP_000417.2:p.Arg2353Cys
NM_001079823.1:c.7057C>T	NP_001073291.1:p.Arg2353Cys
XM_005266981.2:c.7321C>T	XP_005267038.1:p.Arg2441Cys
XM_005266982.2:c.7321C>T	XP_005267039.1:p.Arg2441Cys
XM_011535820.1:c.7315C>T	XP_011534122.1:p.Arg2439Cys
XM_005266981.3:c.7321C>T	XP_005267038.1:p.Arg2441Cys
XM_005266982.3:c.7321C>T	XP_005267039.1:p.Arg2441Cys
XM_011535820.2:c.7315C>T	XP_011534122.1:p.Arg2439Cys
XM_017010851.2:c.7327C>T	XP_016866340.1:p.Arg2443Cys
XM_017010852.1:c.5452C>T	XP_016866341.1:p.Arg1818Cys
NM_000426.4:c.7057C>T MANE Select	NP_000417.3:p.Arg2353Cys
NM_001079823.2:c.7057C>T	NP_001073291.2:p.Arg2353Cys