Canonical Allele Identifier: CA365615560

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129663605A>C (hg19) ; chr6:g.129342460A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129342460A>C , CM000668.2:g.129342460A>C	GRCh38
NC_000006.11:g.129663605A>C , CM000668.1:g.129663605A>C	GRCh37
NC_000006.10:g.129705298A>C	NCBI36
NG_008678.1:g.464320A>C , LRG_409:g.464320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.4429A>C	ENSP00000481744.2:p.Ser1477Arg
ENST00000618192.5:c.4693A>C	ENSP00000480802.2:p.Ser1565Arg
ENST00000692206.1:n.78A>C
ENST00000421865.3:c.4429A>C MANE Select	ENSP00000400365.2:p.Ser1477Arg
ENST00000421865.2:c.4429A>C	ENSP00000400365.2:p.Ser1477Arg
ENST00000617695.4:c.4429A>C	ENSP00000481744.1:p.Ser1477Arg
ENST00000618192.4:c.4429A>C	ENSP00000480802.1:p.Ser1477Arg
NM_000426.3:c.4429A>C , LRG_409t1:c.4429A>C	NP_000417.2:p.Ser1477Arg
NM_001079823.1:c.4429A>C	NP_001073291.1:p.Ser1477Arg
XM_005266981.2:c.4693A>C	XP_005267038.1:p.Ser1565Arg
XM_005266982.2:c.4693A>C	XP_005267039.1:p.Ser1565Arg
XM_011535820.1:c.4693A>C	XP_011534122.1:p.Ser1565Arg
XM_005266981.3:c.4693A>C	XP_005267038.1:p.Ser1565Arg
XM_005266982.3:c.4693A>C	XP_005267039.1:p.Ser1565Arg
XM_011535820.2:c.4693A>C	XP_011534122.1:p.Ser1565Arg
XM_017010851.2:c.4699A>C	XP_016866340.1:p.Ser1567Arg
XM_017010852.1:c.2824A>C	XP_016866341.1:p.Ser942Arg
XM_017010853.1:c.4693A>C	XP_016866342.1:p.Ser1565Arg
NM_000426.4:c.4429A>C MANE Select	NP_000417.3:p.Ser1477Arg
NM_001079823.2:c.4429A>C	NP_001073291.2:p.Ser1477Arg