Canonical Allele Identifier: CA365622221

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129786425C>G (hg19) ; chr6:g.129465280C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465280C>G , CM000668.2:g.129465280C>G	GRCh38
NC_000006.11:g.129786425C>G , CM000668.1:g.129786425C>G	GRCh37
NC_000006.10:g.129828118C>G	NCBI36
NG_008678.1:g.587140C>G , LRG_409:g.587140C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.7291C>G	ENSP00000481744.2:p.Gln2431Glu
ENST00000618192.5:c.7555C>G	ENSP00000480802.2:p.Gln2519Glu
ENST00000684985.1:n.922C>G
ENST00000421865.3:c.7291C>G MANE Select	ENSP00000400365.2:p.Gln2431Glu
ENST00000421865.2:c.7291C>G	ENSP00000400365.2:p.Gln2431Glu
ENST00000617695.4:c.7291C>G	ENSP00000481744.1:p.Gln2431Glu
ENST00000618192.4:c.7288C>G	ENSP00000480802.1:p.Gln2430Glu
NM_000426.3:c.7291C>G , LRG_409t1:c.7291C>G	NP_000417.2:p.Gln2431Glu
NM_001079823.1:c.7291C>G	NP_001073291.1:p.Gln2431Glu
XM_005266981.2:c.7555C>G	XP_005267038.1:p.Gln2519Glu
XM_005266982.2:c.7555C>G	XP_005267039.1:p.Gln2519Glu
XM_011535820.1:c.7549C>G	XP_011534122.1:p.Gln2517Glu
XM_005266981.3:c.7555C>G	XP_005267038.1:p.Gln2519Glu
XM_005266982.3:c.7555C>G	XP_005267039.1:p.Gln2519Glu
XM_011535820.2:c.7549C>G	XP_011534122.1:p.Gln2517Glu
XM_017010851.2:c.7561C>G	XP_016866340.1:p.Gln2521Glu
XM_017010852.1:c.5686C>G	XP_016866341.1:p.Gln1896Glu
NM_000426.4:c.7291C>G MANE Select	NP_000417.3:p.Gln2431Glu
NM_001079823.2:c.7291C>G	NP_001073291.2:p.Gln2431Glu