Canonical Allele Identifier: CA365628388

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129802564A>C (hg19) ; chr6:g.129481419A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481419A>C , CM000668.2:g.129481419A>C	GRCh38
NC_000006.11:g.129802564A>C , CM000668.1:g.129802564A>C	GRCh37
NC_000006.10:g.129844257A>C	NCBI36
NG_008678.1:g.603279A>C , LRG_409:g.603279A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7717A>C	ENSP00000481744.2:p.Lys2573Gln
ENST00000618192.5:c.7993A>C	ENSP00000480802.2:p.Lys2665Gln
ENST00000421865.3:c.7729A>C MANE Select	ENSP00000400365.2:p.Lys2577Gln
ENST00000421865.2:c.7729A>C	ENSP00000400365.2:p.Lys2577Gln
ENST00000617695.4:c.7717A>C	ENSP00000481744.1:p.Lys2573Gln
ENST00000618192.4:c.7726A>C	ENSP00000480802.1:p.Lys2576Gln
NM_000426.3:c.7729A>C , LRG_409t1:c.7729A>C	NP_000417.2:p.Lys2577Gln
NM_001079823.1:c.7717A>C	NP_001073291.1:p.Lys2573Gln
XM_005266981.2:c.7993A>C	XP_005267038.1:p.Lys2665Gln
XM_005266982.2:c.7981A>C	XP_005267039.1:p.Lys2661Gln
XM_011535820.1:c.7987A>C	XP_011534122.1:p.Lys2663Gln
XM_005266981.3:c.7993A>C	XP_005267038.1:p.Lys2665Gln
XM_005266982.3:c.7981A>C	XP_005267039.1:p.Lys2661Gln
XM_011535820.2:c.7987A>C	XP_011534122.1:p.Lys2663Gln
XM_017010851.2:c.7999A>C	XP_016866340.1:p.Lys2667Gln
XM_017010852.1:c.6124A>C	XP_016866341.1:p.Lys2042Gln
NM_000426.4:c.7729A>C MANE Select	NP_000417.3:p.Lys2577Gln
NM_001079823.2:c.7717A>C	NP_001073291.2:p.Lys2573Gln