Canonical Allele Identifier: CA365616159

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129723512A>C (hg19) ; chr6:g.129402367A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129402367A>C , CM000668.2:g.129402367A>C	GRCh38
NC_000006.11:g.129723512A>C , CM000668.1:g.129723512A>C	GRCh37
NC_000006.10:g.129765205A>C	NCBI36
NG_008678.1:g.524227A>C , LRG_409:g.524227A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.5606A>C	ENSP00000481744.2:p.Glu1869Ala
ENST00000618192.5:c.5870A>C	ENSP00000480802.2:p.Glu1957Ala
ENST00000421865.3:c.5606A>C MANE Select	ENSP00000400365.2:p.Glu1869Ala
ENST00000421865.2:c.5606A>C	ENSP00000400365.2:p.Glu1869Ala
ENST00000617695.4:c.5606A>C	ENSP00000481744.1:p.Glu1869Ala
ENST00000618192.4:c.5606A>C	ENSP00000480802.1:p.Glu1869Ala
NM_000426.3:c.5606A>C , LRG_409t1:c.5606A>C	NP_000417.2:p.Glu1869Ala
NM_001079823.1:c.5606A>C	NP_001073291.1:p.Glu1869Ala
XM_005266981.2:c.5870A>C	XP_005267038.1:p.Glu1957Ala
XM_005266982.2:c.5870A>C	XP_005267039.1:p.Glu1957Ala
XM_011535820.1:c.5870A>C	XP_011534122.1:p.Glu1957Ala
XM_005266981.3:c.5870A>C	XP_005267038.1:p.Glu1957Ala
XM_005266982.3:c.5870A>C	XP_005267039.1:p.Glu1957Ala
XM_011535820.2:c.5870A>C	XP_011534122.1:p.Glu1957Ala
XM_017010851.2:c.5876A>C	XP_016866340.1:p.Glu1959Ala
XM_017010852.1:c.4001A>C	XP_016866341.1:p.Glu1334Ala
NM_000426.4:c.5606A>C MANE Select	NP_000417.3:p.Glu1869Ala
NM_001079823.2:c.5606A>C	NP_001073291.2:p.Glu1869Ala