Canonical Allele Identifier: CA3994320

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129454216C>G , CM000668.2:g.129454216C>G	GRCh38
NC_000006.11:g.129775361C>G , CM000668.1:g.129775361C>G	GRCh37
NC_000006.10:g.129817054C>G	NCBI36
NG_008678.1:g.576076C>G , LRG_409:g.576076C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.6635C>G MANE Select	NP_000417.3:p.Ser2212Cys
ENST00000421865.3:c.6635C>G MANE Select	ENSP00000400365.2:p.Ser2212Cys
NM_000426.3:c.6635C>G , LRG_409t1:c.6635C>G	NP_000417.2:p.Ser2212Cys
NM_001079823.1:c.6635C>G	NP_001073291.1:p.Ser2212Cys
NM_001079823.2:c.6635C>G	NP_001073291.2:p.Ser2212Cys
ENST00000421865.2:c.6635C>G	ENSP00000400365.2:p.Ser2212Cys
ENST00000617695.4:c.6635C>G	ENSP00000481744.1:p.Ser2212Cys
ENST00000617695.5:c.6635C>G	ENSP00000481744.2:p.Ser2212Cys
ENST00000618192.4:c.6632C>G	ENSP00000480802.1:p.Ser2211Cys
ENST00000618192.5:c.6899C>G	ENSP00000480802.2:p.Ser2300Cys
ENST00000684985.1:n.266C>G
XM_005266981.2:c.6899C>G	XP_005267038.1:p.Ser2300Cys
XM_005266981.3:c.6899C>G	XP_005267038.1:p.Ser2300Cys
XM_005266982.2:c.6899C>G	XP_005267039.1:p.Ser2300Cys
XM_005266982.3:c.6899C>G	XP_005267039.1:p.Ser2300Cys
XM_011535820.1:c.6893C>G	XP_011534122.1:p.Ser2298Cys
XM_011535820.2:c.6893C>G	XP_011534122.1:p.Ser2298Cys
XM_017010851.2:c.6905C>G	XP_016866340.1:p.Ser2302Cys
XM_017010852.1:c.5030C>G	XP_016866341.1:p.Ser1677Cys