Canonical Allele Identifier: CA3994435

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464370A>G , CM000668.2:g.129464370A>G	GRCh38
NC_000006.11:g.129785515A>G , CM000668.1:g.129785515A>G	GRCh37
NC_000006.10:g.129827208A>G	NCBI36
NG_008678.1:g.586230A>G , LRG_409:g.586230A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7073A>G MANE Select	NP_000417.3:p.Tyr2358Cys
ENST00000421865.3:c.7073A>G MANE Select	ENSP00000400365.2:p.Tyr2358Cys
NM_000426.3:c.7073A>G , LRG_409t1:c.7073A>G	NP_000417.2:p.Tyr2358Cys
NM_001079823.1:c.7073A>G	NP_001073291.1:p.Tyr2358Cys
NM_001079823.2:c.7073A>G	NP_001073291.2:p.Tyr2358Cys
ENST00000421865.2:c.7073A>G	ENSP00000400365.2:p.Tyr2358Cys
ENST00000617695.4:c.7073A>G	ENSP00000481744.1:p.Tyr2358Cys
ENST00000617695.5:c.7073A>G	ENSP00000481744.2:p.Tyr2358Cys
ENST00000618192.4:c.7070A>G	ENSP00000480802.1:p.Tyr2357Cys
ENST00000618192.5:c.7337A>G	ENSP00000480802.2:p.Tyr2446Cys
ENST00000684985.1:n.704A>G
ENST00000688150.1:n.412A>G
XM_005266981.2:c.7337A>G	XP_005267038.1:p.Tyr2446Cys
XM_005266981.3:c.7337A>G	XP_005267038.1:p.Tyr2446Cys
XM_005266982.2:c.7337A>G	XP_005267039.1:p.Tyr2446Cys
XM_005266982.3:c.7337A>G	XP_005267039.1:p.Tyr2446Cys
XM_011535820.1:c.7331A>G	XP_011534122.1:p.Tyr2444Cys
XM_011535820.2:c.7331A>G	XP_011534122.1:p.Tyr2444Cys
XM_017010851.2:c.7343A>G	XP_016866340.1:p.Tyr2448Cys
XM_017010852.1:c.5468A>G	XP_016866341.1:p.Tyr1823Cys