Canonical Allele Identifier: CA365611025

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129618888T>G (hg19) ; chr6:g.129297743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297743T>G , CM000668.2:g.129297743T>G	GRCh38
NC_000006.11:g.129618888T>G , CM000668.1:g.129618888T>G	GRCh37
NC_000006.10:g.129660581T>G	NCBI36
NG_008678.1:g.419603T>G , LRG_409:g.419603T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2915T>G	ENSP00000481744.2:p.Phe972Cys
ENST00000618192.5:c.3179T>G	ENSP00000480802.2:p.Phe1060Cys
ENST00000421865.3:c.2915T>G MANE Select	ENSP00000400365.2:p.Phe972Cys
ENST00000645154.1:c.430T>G
ENST00000421865.2:c.2915T>G	ENSP00000400365.2:p.Phe972Cys
ENST00000617695.4:c.2915T>G	ENSP00000481744.1:p.Phe972Cys
ENST00000618192.4:c.2915T>G	ENSP00000480802.1:p.Phe972Cys
NM_000426.3:c.2915T>G , LRG_409t1:c.2915T>G	NP_000417.2:p.Phe972Cys
NM_001079823.1:c.2915T>G	NP_001073291.1:p.Phe972Cys
XM_005266981.2:c.3179T>G	XP_005267038.1:p.Phe1060Cys
XM_005266982.2:c.3179T>G	XP_005267039.1:p.Phe1060Cys
XM_011535820.1:c.3179T>G	XP_011534122.1:p.Phe1060Cys
XM_005266981.3:c.3179T>G	XP_005267038.1:p.Phe1060Cys
XM_005266982.3:c.3179T>G	XP_005267039.1:p.Phe1060Cys
XM_011535820.2:c.3179T>G	XP_011534122.1:p.Phe1060Cys
XM_017010851.2:c.3185T>G	XP_016866340.1:p.Phe1062Cys
XM_017010852.1:c.1310T>G	XP_016866341.1:p.Phe437Cys
XM_017010853.1:c.3179T>G	XP_016866342.1:p.Phe1060Cys
NM_000426.4:c.2915T>G MANE Select	NP_000417.3:p.Phe972Cys
NM_001079823.2:c.2915T>G	NP_001073291.2:p.Phe972Cys