Canonical Allele Identifier: CA365628339

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1997327
• ClinVar RCV Id: RCV002791712
• MyVariant Identifiers: chr6:g.129802550C>T (hg19) ; chr6:g.129481405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481405C>T , CM000668.2:g.129481405C>T	GRCh38
NC_000006.11:g.129802550C>T , CM000668.1:g.129802550C>T	GRCh37
NC_000006.10:g.129844243C>T	NCBI36
NG_008678.1:g.603265C>T , LRG_409:g.603265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7703C>T	ENSP00000481744.2:p.Ala2568Val
ENST00000618192.5:c.7979C>T	ENSP00000480802.2:p.Ala2660Val
ENST00000421865.3:c.7715C>T MANE Select	ENSP00000400365.2:p.Ala2572Val
ENST00000421865.2:c.7715C>T	ENSP00000400365.2:p.Ala2572Val
ENST00000617695.4:c.7703C>T	ENSP00000481744.1:p.Ala2568Val
ENST00000618192.4:c.7712C>T	ENSP00000480802.1:p.Ala2571Val
NM_000426.3:c.7715C>T , LRG_409t1:c.7715C>T	NP_000417.2:p.Ala2572Val
NM_001079823.1:c.7703C>T	NP_001073291.1:p.Ala2568Val
XM_005266981.2:c.7979C>T	XP_005267038.1:p.Ala2660Val
XM_005266982.2:c.7967C>T	XP_005267039.1:p.Ala2656Val
XM_011535820.1:c.7973C>T	XP_011534122.1:p.Ala2658Val
XM_005266981.3:c.7979C>T	XP_005267038.1:p.Ala2660Val
XM_005266982.3:c.7967C>T	XP_005267039.1:p.Ala2656Val
XM_011535820.2:c.7973C>T	XP_011534122.1:p.Ala2658Val
XM_017010851.2:c.7985C>T	XP_016866340.1:p.Ala2662Val
XM_017010852.1:c.6110C>T	XP_016866341.1:p.Ala2037Val
NM_000426.4:c.7715C>T MANE Select	NP_000417.3:p.Ala2572Val
NM_001079823.2:c.7703C>T	NP_001073291.2:p.Ala2568Val