Canonical Allele Identifier: CA365619114

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129781374C>A (hg19) ; chr6:g.129460229C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460229C>A , CM000668.2:g.129460229C>A	GRCh38
NC_000006.11:g.129781374C>A , CM000668.1:g.129781374C>A	GRCh37
NC_000006.10:g.129823067C>A	NCBI36
NG_008678.1:g.582089C>A , LRG_409:g.582089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6897C>A	ENSP00000481744.2:p.Phe2299Leu
ENST00000618192.5:c.7161C>A	ENSP00000480802.2:p.Phe2387Leu
ENST00000684985.1:n.528C>A
ENST00000688150.1:n.236C>A
ENST00000421865.3:c.6897C>A MANE Select	ENSP00000400365.2:p.Phe2299Leu
ENST00000421865.2:c.6897C>A	ENSP00000400365.2:p.Phe2299Leu
ENST00000617695.4:c.6897C>A	ENSP00000481744.1:p.Phe2299Leu
ENST00000618192.4:c.6894C>A	ENSP00000480802.1:p.Phe2298Leu
NM_000426.3:c.6897C>A , LRG_409t1:c.6897C>A	NP_000417.2:p.Phe2299Leu
NM_001079823.1:c.6897C>A	NP_001073291.1:p.Phe2299Leu
XM_005266981.2:c.7161C>A	XP_005267038.1:p.Phe2387Leu
XM_005266982.2:c.7161C>A	XP_005267039.1:p.Phe2387Leu
XM_011535820.1:c.7155C>A	XP_011534122.1:p.Phe2385Leu
XM_005266981.3:c.7161C>A	XP_005267038.1:p.Phe2387Leu
XM_005266982.3:c.7161C>A	XP_005267039.1:p.Phe2387Leu
XM_011535820.2:c.7155C>A	XP_011534122.1:p.Phe2385Leu
XM_017010851.2:c.7167C>A	XP_016866340.1:p.Phe2389Leu
XM_017010852.1:c.5292C>A	XP_016866341.1:p.Phe1764Leu
NM_000426.4:c.6897C>A MANE Select	NP_000417.3:p.Phe2299Leu
NM_001079823.2:c.6897C>A	NP_001073291.2:p.Phe2299Leu