Canonical Allele Identifier: CA052035

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[129280071A>C;129502696T>C] , CM000668.2:g.[129280071A>C;129502696T>C]	GRCh38
NC_000006.11:g.[129601216A>C;129823841T>C] , CM000668.1:g.[129601216A>C;129823841T>C]	GRCh37
NC_000006.10:g.[129642909A>C;129865534T>C]	NCBI36
NG_008678.1:g.[401931A>C;624556T>C] , LRG_409:g.[401931A>C;624556T>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.[2461A>C;8270T>C]	ENSP00000481744.2:p.[Thr821Pro;Ile2757Thr]
ENST00000618192.5:c.[2461A>C;8546T>C]	ENSP00000480802.2:p.[Thr821Pro;Ile2849Thr]
ENST00000421865.3:c.[2461A>C;8282T>C] MANE Select	ENSP00000400365.2:p.[Thr821Pro;Ile2761Thr]
ENST00000421865.2:c.[2461A>C;8282T>C]	ENSP00000400365.2:p.[Thr821Pro;Ile2761Thr]
ENST00000617695.4:c.[2461A>C;8270T>C]	ENSP00000481744.1:p.[Thr821Pro;Ile2757Thr]
ENST00000618192.4:c.[2461A>C;8279T>C]	ENSP00000480802.1:p.[Thr821Pro;Ile2760Thr]
NM_000426.3:c.[2461A>C;8282T>C] , LRG_409t1:c.[2461A>C;8282T>C]	NP_000417.2:p.[Thr821Pro;Ile2761Thr]
NM_001079823.1:c.[2461A>C;8270T>C]	NP_001073291.1:p.[Thr821Pro;Ile2757Thr]
XM_005266981.2:c.[2461A>C;8546T>C]	XP_005267038.1:p.[Thr821Pro;Ile2849Thr]
XM_005266982.2:c.[2461A>C;8534T>C]	XP_005267039.1:p.[Thr821Pro;Ile2845Thr]
XM_011535820.1:c.[2461A>C;8540T>C]	XP_011534122.1:p.[Thr821Pro;Ile2847Thr]
XM_005266981.3:c.[2461A>C;8546T>C]	XP_005267038.1:p.[Thr821Pro;Ile2849Thr]
XM_005266982.3:c.[2461A>C;8534T>C]	XP_005267039.1:p.[Thr821Pro;Ile2845Thr]
XM_011535820.2:c.[2461A>C;8540T>C]	XP_011534122.1:p.[Thr821Pro;Ile2847Thr]
XM_017010851.2:c.[2467A>C;8552T>C]	XP_016866340.1:p.[Thr823Pro;Ile2851Thr]
XM_017010852.1:c.[592A>C;6677T>C]	XP_016866341.1:p.[Thr198Pro;Ile2226Thr]
NM_000426.4:c.[2461A>C;8282T>C] MANE Select	NP_000417.3:p.[Thr821Pro;Ile2761Thr]
NM_001079823.2:c.[2461A>C;8270T>C]	NP_001073291.2:p.[Thr821Pro;Ile2757Thr]