Canonical Allele Identifier: CA365620314

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129464351-A-C
• MyVariant Identifiers: chr6:g.129785496A>C (hg19) ; chr6:g.129464351A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464351A>C , CM000668.2:g.129464351A>C	GRCh38
NC_000006.11:g.129785496A>C , CM000668.1:g.129785496A>C	GRCh37
NC_000006.10:g.129827189A>C	NCBI36
NG_008678.1:g.586211A>C , LRG_409:g.586211A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.7054A>C	ENSP00000481744.2:p.Ser2352Arg
ENST00000618192.5:c.7318A>C	ENSP00000480802.2:p.Ser2440Arg
ENST00000684985.1:n.685A>C
ENST00000688150.1:n.393A>C
ENST00000421865.3:c.7054A>C MANE Select	ENSP00000400365.2:p.Ser2352Arg
ENST00000421865.2:c.7054A>C	ENSP00000400365.2:p.Ser2352Arg
ENST00000617695.4:c.7054A>C	ENSP00000481744.1:p.Ser2352Arg
ENST00000618192.4:c.7051A>C	ENSP00000480802.1:p.Ser2351Arg
NM_000426.3:c.7054A>C , LRG_409t1:c.7054A>C	NP_000417.2:p.Ser2352Arg
NM_001079823.1:c.7054A>C	NP_001073291.1:p.Ser2352Arg
XM_005266981.2:c.7318A>C	XP_005267038.1:p.Ser2440Arg
XM_005266982.2:c.7318A>C	XP_005267039.1:p.Ser2440Arg
XM_011535820.1:c.7312A>C	XP_011534122.1:p.Ser2438Arg
XM_005266981.3:c.7318A>C	XP_005267038.1:p.Ser2440Arg
XM_005266982.3:c.7318A>C	XP_005267039.1:p.Ser2440Arg
XM_011535820.2:c.7312A>C	XP_011534122.1:p.Ser2438Arg
XM_017010851.2:c.7324A>C	XP_016866340.1:p.Ser2442Arg
XM_017010852.1:c.5449A>C	XP_016866341.1:p.Ser1817Arg
NM_000426.4:c.7054A>C MANE Select	NP_000417.3:p.Ser2352Arg
NM_001079823.2:c.7054A>C	NP_001073291.2:p.Ser2352Arg