Canonical Allele Identifier: CA365621582

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129786329A>C (hg19) ; chr6:g.129465184A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465184A>C , CM000668.2:g.129465184A>C	GRCh38
NC_000006.11:g.129786329A>C , CM000668.1:g.129786329A>C	GRCh37
NC_000006.10:g.129828022A>C	NCBI36
NG_008678.1:g.587044A>C , LRG_409:g.587044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7195A>C	ENSP00000481744.2:p.Lys2399Gln
ENST00000618192.5:c.7459A>C	ENSP00000480802.2:p.Lys2487Gln
ENST00000684985.1:n.826A>C
ENST00000688150.1:n.534A>C
ENST00000421865.3:c.7195A>C MANE Select	ENSP00000400365.2:p.Lys2399Gln
ENST00000421865.2:c.7195A>C	ENSP00000400365.2:p.Lys2399Gln
ENST00000617695.4:c.7195A>C	ENSP00000481744.1:p.Lys2399Gln
ENST00000618192.4:c.7192A>C	ENSP00000480802.1:p.Lys2398Gln
NM_000426.3:c.7195A>C , LRG_409t1:c.7195A>C	NP_000417.2:p.Lys2399Gln
NM_001079823.1:c.7195A>C	NP_001073291.1:p.Lys2399Gln
XM_005266981.2:c.7459A>C	XP_005267038.1:p.Lys2487Gln
XM_005266982.2:c.7459A>C	XP_005267039.1:p.Lys2487Gln
XM_011535820.1:c.7453A>C	XP_011534122.1:p.Lys2485Gln
XM_005266981.3:c.7459A>C	XP_005267038.1:p.Lys2487Gln
XM_005266982.3:c.7459A>C	XP_005267039.1:p.Lys2487Gln
XM_011535820.2:c.7453A>C	XP_011534122.1:p.Lys2485Gln
XM_017010851.2:c.7465A>C	XP_016866340.1:p.Lys2489Gln
XM_017010852.1:c.5590A>C	XP_016866341.1:p.Lys1864Gln
NM_000426.4:c.7195A>C MANE Select	NP_000417.3:p.Lys2399Gln
NM_001079823.2:c.7195A>C	NP_001073291.2:p.Lys2399Gln