Canonical Allele Identifier: CA365617446

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129670483C>A (hg19) ; chr6:g.129349338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349338C>A , CM000668.2:g.129349338C>A	GRCh38
NC_000006.11:g.129670483C>A , CM000668.1:g.129670483C>A	GRCh37
NC_000006.10:g.129712176C>A	NCBI36
NG_008678.1:g.471198C>A , LRG_409:g.471198C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4477C>A	ENSP00000481744.2:p.Arg1493Ser
ENST00000618192.5:c.4741C>A	ENSP00000480802.2:p.Arg1581Ser
ENST00000692206.1:n.126C>A
ENST00000693425.1:n.3C>A
ENST00000421865.3:c.4477C>A MANE Select	ENSP00000400365.2:p.Arg1493Ser
ENST00000421865.2:c.4477C>A	ENSP00000400365.2:p.Arg1493Ser
ENST00000617695.4:c.4477C>A	ENSP00000481744.1:p.Arg1493Ser
ENST00000618192.4:c.4477C>A	ENSP00000480802.1:p.Arg1493Ser
NM_000426.3:c.4477C>A , LRG_409t1:c.4477C>A	NP_000417.2:p.Arg1493Ser
NM_001079823.1:c.4477C>A	NP_001073291.1:p.Arg1493Ser
XM_005266981.2:c.4741C>A	XP_005267038.1:p.Arg1581Ser
XM_005266982.2:c.4741C>A	XP_005267039.1:p.Arg1581Ser
XM_011535820.1:c.4741C>A	XP_011534122.1:p.Arg1581Ser
XM_005266981.3:c.4741C>A	XP_005267038.1:p.Arg1581Ser
XM_005266982.3:c.4741C>A	XP_005267039.1:p.Arg1581Ser
XM_011535820.2:c.4741C>A	XP_011534122.1:p.Arg1581Ser
XM_017010851.2:c.4747C>A	XP_016866340.1:p.Arg1583Ser
XM_017010852.1:c.2872C>A	XP_016866341.1:p.Arg958Ser
XM_017010853.1:c.4741C>A	XP_016866342.1:p.Arg1581Ser
NM_000426.4:c.4477C>A MANE Select	NP_000417.3:p.Arg1493Ser
NM_001079823.2:c.4477C>A	NP_001073291.2:p.Arg1493Ser