Canonical Allele Identifier: CA2580573346

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[129098309C>T;129507518G>C] , CM000668.2:g.[129098309C>T;129507518G>C]	GRCh38
NC_000006.11:g.[129419454C>T;129828663G>C] , CM000668.1:g.[129419454C>T;129828663G>C]	GRCh37
NC_000006.10:g.[129461147C>T;129870356G>C]	NCBI36
NG_008678.1:g.[220169C>T;629378G>C] , LRG_409:g.[220169C>T;629378G>C]

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.[533C>T;8733G>C] MANE Select	NP_000417.3:p.[Thr178Met;Arg2911Ser]
ENST00000421865.3:c.[533C>T;8733G>C] MANE Select	ENSP00000400365.2:p.[Thr178Met;Arg2911Ser]
NM_000426.3:c.[533C>T;8733G>C] , LRG_409t1:c.[533C>T;8733G>C]	NP_000417.2:p.[Thr178Met;Arg2911Ser]
NM_001079823.1:c.[533C>T;8721G>C]	NP_001073291.1:p.[Thr178Met;Arg2907Ser]
NM_001079823.2:c.[533C>T;8721G>C]	NP_001073291.2:p.[Thr178Met;Arg2907Ser]
ENST00000421865.2:c.[533C>T;8733G>C]	ENSP00000400365.2:p.[Thr178Met;Arg2911Ser]
ENST00000617695.4:c.[533C>T;8721G>C]	ENSP00000481744.1:p.[Thr178Met;Arg2907Ser]
ENST00000617695.5:c.[533C>T;8721G>C]	ENSP00000481744.2:p.[Thr178Met;Arg2907Ser]
ENST00000618192.4:c.[533C>T;8730G>C]	ENSP00000480802.1:p.[Thr178Met;Arg2910Ser]
ENST00000618192.5:c.[533C>T;8997G>C]	ENSP00000480802.2:p.[Thr178Met;Arg2999Ser]
XM_005266981.2:c.[533C>T;8997G>C]	XP_005267038.1:p.[Thr178Met;Arg2999Ser]
XM_005266981.3:c.[533C>T;8997G>C]	XP_005267038.1:p.[Thr178Met;Arg2999Ser]
XM_005266982.2:c.[533C>T;8985G>C]	XP_005267039.1:p.[Thr178Met;Arg2995Ser]
XM_005266982.3:c.[533C>T;8985G>C]	XP_005267039.1:p.[Thr178Met;Arg2995Ser]
XM_011535820.1:c.[533C>T;8991G>C]	XP_011534122.1:p.[Thr178Met;Arg2997Ser]
XM_011535820.2:c.[533C>T;8991G>C]	XP_011534122.1:p.[Thr178Met;Arg2997Ser]
XM_017010851.2:c.[539C>T;9003G>C]	XP_016866340.1:p.[Thr180Met;Arg3001Ser]