Canonical Allele Identifier: CA3994426

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1014560
• ClinVar RCV Id: RCV001313311
• dbSNP Id: rs779524640
• ExAC: 6:129785497 G / C
• gnomAD v2: 6-129785497-G-C
• gnomAD v3: 6-129464352-G-C
• gnomAD v4: 6-129464352-G-C
• MyVariant Identifiers: chr6:g.129785497G>C (hg19) ; chr6:g.129464352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464352G>C , CM000668.2:g.129464352G>C	GRCh38
NC_000006.11:g.129785497G>C , CM000668.1:g.129785497G>C	GRCh37
NC_000006.10:g.129827190G>C	NCBI36
NG_008678.1:g.586212G>C , LRG_409:g.586212G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.7055G>C	ENSP00000481744.2:p.Ser2352Thr
ENST00000618192.5:c.7319G>C	ENSP00000480802.2:p.Ser2440Thr
ENST00000684985.1:n.686G>C
ENST00000688150.1:n.394G>C
ENST00000421865.3:c.7055G>C MANE Select	ENSP00000400365.2:p.Ser2352Thr
ENST00000421865.2:c.7055G>C	ENSP00000400365.2:p.Ser2352Thr
ENST00000617695.4:c.7055G>C	ENSP00000481744.1:p.Ser2352Thr
ENST00000618192.4:c.7052G>C	ENSP00000480802.1:p.Ser2351Thr
NM_000426.3:c.7055G>C , LRG_409t1:c.7055G>C	NP_000417.2:p.Ser2352Thr
NM_001079823.1:c.7055G>C	NP_001073291.1:p.Ser2352Thr
XM_005266981.2:c.7319G>C	XP_005267038.1:p.Ser2440Thr
XM_005266982.2:c.7319G>C	XP_005267039.1:p.Ser2440Thr
XM_011535820.1:c.7313G>C	XP_011534122.1:p.Ser2438Thr
XM_005266981.3:c.7319G>C	XP_005267038.1:p.Ser2440Thr
XM_005266982.3:c.7319G>C	XP_005267039.1:p.Ser2440Thr
XM_011535820.2:c.7313G>C	XP_011534122.1:p.Ser2438Thr
XM_017010851.2:c.7325G>C	XP_016866340.1:p.Ser2442Thr
XM_017010852.1:c.5450G>C	XP_016866341.1:p.Ser1817Thr
NM_000426.4:c.7055G>C MANE Select	NP_000417.3:p.Ser2352Thr
NM_001079823.2:c.7055G>C	NP_001073291.2:p.Ser2352Thr