Canonical Allele Identifier: CA365620288

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2169623
• ClinVar RCV Id: RCV003100660
• MyVariant Identifiers: chr6:g.129785494T>C (hg19) ; chr6:g.129464349T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464349T>C , CM000668.2:g.129464349T>C	GRCh38
NC_000006.11:g.129785494T>C , CM000668.1:g.129785494T>C	GRCh37
NC_000006.10:g.129827187T>C	NCBI36
NG_008678.1:g.586209T>C , LRG_409:g.586209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7052T>C	ENSP00000481744.2:p.Val2351Ala
ENST00000618192.5:c.7316T>C	ENSP00000480802.2:p.Val2439Ala
ENST00000684985.1:n.683T>C
ENST00000688150.1:n.391T>C
ENST00000421865.3:c.7052T>C MANE Select	ENSP00000400365.2:p.Val2351Ala
ENST00000421865.2:c.7052T>C	ENSP00000400365.2:p.Val2351Ala
ENST00000617695.4:c.7052T>C	ENSP00000481744.1:p.Val2351Ala
ENST00000618192.4:c.7049T>C	ENSP00000480802.1:p.Val2350Ala
NM_000426.3:c.7052T>C , LRG_409t1:c.7052T>C	NP_000417.2:p.Val2351Ala
NM_001079823.1:c.7052T>C	NP_001073291.1:p.Val2351Ala
XM_005266981.2:c.7316T>C	XP_005267038.1:p.Val2439Ala
XM_005266982.2:c.7316T>C	XP_005267039.1:p.Val2439Ala
XM_011535820.1:c.7310T>C	XP_011534122.1:p.Val2437Ala
XM_005266981.3:c.7316T>C	XP_005267038.1:p.Val2439Ala
XM_005266982.3:c.7316T>C	XP_005267039.1:p.Val2439Ala
XM_011535820.2:c.7310T>C	XP_011534122.1:p.Val2437Ala
XM_017010851.2:c.7322T>C	XP_016866340.1:p.Val2441Ala
XM_017010852.1:c.5447T>C	XP_016866341.1:p.Val1816Ala
NM_000426.4:c.7052T>C MANE Select	NP_000417.3:p.Val2351Ala
NM_001079823.2:c.7052T>C	NP_001073291.2:p.Val2351Ala