Canonical Allele Identifier: CA3994759

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129492444C>T , CM000668.2:g.129492444C>T	GRCh38
NC_000006.11:g.129813589C>T , CM000668.1:g.129813589C>T	GRCh37
NC_000006.10:g.129855282C>T	NCBI36
NG_008678.1:g.614304C>T , LRG_409:g.614304C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8205C>T MANE Select	NP_000417.3:p.Pro2735=
ENST00000421865.3:c.8205C>T MANE Select	ENSP00000400365.2:p.Pro2735=
NM_000426.3:c.8205C>T , LRG_409t1:c.8205C>T	NP_000417.2:p.Pro2735=
NM_001079823.1:c.8193C>T	NP_001073291.1:p.Pro2731=
NM_001079823.2:c.8193C>T	NP_001073291.2:p.Pro2731=
ENST00000421865.2:c.8205C>T	ENSP00000400365.2:p.Pro2735=
ENST00000494137.1:n.367C>T
ENST00000494137.2:c.270C>T	ENSP00000510626.1:p.Pro90=
ENST00000498257.5:n.518C>T
ENST00000498257.6:c.270C>T	ENSP00000510533.1:p.Pro90=
ENST00000617695.4:c.8193C>T	ENSP00000481744.1:p.Pro2731=
ENST00000617695.5:c.8193C>T	ENSP00000481744.2:p.Pro2731=
ENST00000618192.4:c.8202C>T	ENSP00000480802.1:p.Pro2734=
ENST00000618192.5:c.8469C>T	ENSP00000480802.2:p.Pro2823=
ENST00000688198.1:n.1183C>T
ENST00000688799.1:c.270C>T	ENSP00000508458.1:p.Pro90=
ENST00000690858.1:n.1199C>T
XM_005266981.2:c.8469C>T	XP_005267038.1:p.Pro2823=
XM_005266981.3:c.8469C>T	XP_005267038.1:p.Pro2823=
XM_005266982.2:c.8457C>T	XP_005267039.1:p.Pro2819=
XM_005266982.3:c.8457C>T	XP_005267039.1:p.Pro2819=
XM_011535820.1:c.8463C>T	XP_011534122.1:p.Pro2821=
XM_011535820.2:c.8463C>T	XP_011534122.1:p.Pro2821=
XM_017010851.2:c.8475C>T	XP_016866340.1:p.Pro2825=
XM_017010852.1:c.6600C>T	XP_016866341.1:p.Pro2200=