Canonical Allele Identifier: CA365619944

Gene: LAMA2

Linked Data

• dbSNP Id: rs1283730544
• gnomAD v2: 6-129785453-T-G
• gnomAD v4: 6-129464308-T-G
• MyVariant Identifiers: chr6:g.129785453T>G (hg19) ; chr6:g.129464308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464308T>G , CM000668.2:g.129464308T>G	GRCh38
NC_000006.11:g.129785453T>G , CM000668.1:g.129785453T>G	GRCh37
NC_000006.10:g.129827146T>G	NCBI36
NG_008678.1:g.586168T>G , LRG_409:g.586168T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7011T>G	ENSP00000481744.2:p.Ser2337Arg
ENST00000618192.5:c.7275T>G	ENSP00000480802.2:p.Ser2425Arg
ENST00000684985.1:n.642T>G
ENST00000688150.1:n.350T>G
ENST00000421865.3:c.7011T>G MANE Select	ENSP00000400365.2:p.Ser2337Arg
ENST00000421865.2:c.7011T>G	ENSP00000400365.2:p.Ser2337Arg
ENST00000617695.4:c.7011T>G	ENSP00000481744.1:p.Ser2337Arg
ENST00000618192.4:c.7008T>G	ENSP00000480802.1:p.Ser2336Arg
NM_000426.3:c.7011T>G , LRG_409t1:c.7011T>G	NP_000417.2:p.Ser2337Arg
NM_001079823.1:c.7011T>G	NP_001073291.1:p.Ser2337Arg
XM_005266981.2:c.7275T>G	XP_005267038.1:p.Ser2425Arg
XM_005266982.2:c.7275T>G	XP_005267039.1:p.Ser2425Arg
XM_011535820.1:c.7269T>G	XP_011534122.1:p.Ser2423Arg
XM_005266981.3:c.7275T>G	XP_005267038.1:p.Ser2425Arg
XM_005266982.3:c.7275T>G	XP_005267039.1:p.Ser2425Arg
XM_011535820.2:c.7269T>G	XP_011534122.1:p.Ser2423Arg
XM_017010851.2:c.7281T>G	XP_016866340.1:p.Ser2427Arg
XM_017010852.1:c.5406T>G	XP_016866341.1:p.Ser1802Arg
NM_000426.4:c.7011T>G MANE Select	NP_000417.3:p.Ser2337Arg
NM_001079823.2:c.7011T>G	NP_001073291.2:p.Ser2337Arg