Canonical Allele Identifier: CA365630517

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129491937C>A , CM000668.2:g.129491937C>A	GRCh38
NC_000006.11:g.129813082C>A , CM000668.1:g.129813082C>A	GRCh37
NC_000006.10:g.129854775C>A	NCBI36
NG_008678.1:g.613797C>A , LRG_409:g.613797C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7935C>A MANE Select	NP_000417.3:p.Tyr2645Ter
ENST00000421865.3:c.7935C>A MANE Select	ENSP00000400365.2:p.Tyr2645Ter
NM_000426.3:c.7935C>A , LRG_409t1:c.7935C>A	NP_000417.2:p.Tyr2645Ter
NM_001079823.1:c.7923C>A	NP_001073291.1:p.Tyr2641Ter
NM_001079823.2:c.7923C>A	NP_001073291.2:p.Tyr2641Ter
ENST00000421865.2:c.7935C>A	ENSP00000400365.2:p.Tyr2645Ter
ENST00000494137.1:n.97C>A
ENST00000494137.2:c.-1C>A	ENSP00000510626.1:n.-1C>A
ENST00000498257.5:n.248C>A
ENST00000498257.6:c.-1C>A	ENSP00000510533.1:n.-1C>A
ENST00000617695.4:c.7923C>A	ENSP00000481744.1:p.Tyr2641Ter
ENST00000617695.5:c.7923C>A	ENSP00000481744.2:p.Tyr2641Ter
ENST00000618192.4:c.7932C>A	ENSP00000480802.1:p.Tyr2644Ter
ENST00000618192.5:c.8199C>A	ENSP00000480802.2:p.Tyr2733Ter
ENST00000688198.1:n.913C>A
ENST00000688799.1:c.-1C>A	ENSP00000508458.1:n.-1C>A
ENST00000690858.1:n.929C>A
XM_005266981.2:c.8199C>A	XP_005267038.1:p.Tyr2733Ter
XM_005266981.3:c.8199C>A	XP_005267038.1:p.Tyr2733Ter
XM_005266982.2:c.8187C>A	XP_005267039.1:p.Tyr2729Ter
XM_005266982.3:c.8187C>A	XP_005267039.1:p.Tyr2729Ter
XM_011535820.1:c.8193C>A	XP_011534122.1:p.Tyr2731Ter
XM_011535820.2:c.8193C>A	XP_011534122.1:p.Tyr2731Ter
XM_017010851.2:c.8205C>A	XP_016866340.1:p.Tyr2735Ter
XM_017010852.1:c.6330C>A	XP_016866341.1:p.Tyr2110Ter