Canonical Allele Identifier: CA365617461

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129670487G>T (hg19) ; chr6:g.129349342G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349342G>T , CM000668.2:g.129349342G>T	GRCh38
NC_000006.11:g.129670487G>T , CM000668.1:g.129670487G>T	GRCh37
NC_000006.10:g.129712180G>T	NCBI36
NG_008678.1:g.471202G>T , LRG_409:g.471202G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4481G>T	ENSP00000481744.2:p.Cys1494Phe
ENST00000618192.5:c.4745G>T	ENSP00000480802.2:p.Cys1582Phe
ENST00000692206.1:n.130G>T
ENST00000693425.1:n.7G>T
ENST00000421865.3:c.4481G>T MANE Select	ENSP00000400365.2:p.Cys1494Phe
ENST00000421865.2:c.4481G>T	ENSP00000400365.2:p.Cys1494Phe
ENST00000617695.4:c.4481G>T	ENSP00000481744.1:p.Cys1494Phe
ENST00000618192.4:c.4481G>T	ENSP00000480802.1:p.Cys1494Phe
NM_000426.3:c.4481G>T , LRG_409t1:c.4481G>T	NP_000417.2:p.Cys1494Phe
NM_001079823.1:c.4481G>T	NP_001073291.1:p.Cys1494Phe
XM_005266981.2:c.4745G>T	XP_005267038.1:p.Cys1582Phe
XM_005266982.2:c.4745G>T	XP_005267039.1:p.Cys1582Phe
XM_011535820.1:c.4745G>T	XP_011534122.1:p.Cys1582Phe
XM_005266981.3:c.4745G>T	XP_005267038.1:p.Cys1582Phe
XM_005266982.3:c.4745G>T	XP_005267039.1:p.Cys1582Phe
XM_011535820.2:c.4745G>T	XP_011534122.1:p.Cys1582Phe
XM_017010851.2:c.4751G>T	XP_016866340.1:p.Cys1584Phe
XM_017010852.1:c.2876G>T	XP_016866341.1:p.Cys959Phe
XM_017010853.1:c.4745G>T	XP_016866342.1:p.Cys1582Phe
NM_000426.4:c.4481G>T MANE Select	NP_000417.3:p.Cys1494Phe
NM_001079823.2:c.4481G>T	NP_001073291.2:p.Cys1494Phe