Canonical Allele Identifier: CA153427

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 129434
• ClinVar RCV Id: RCV000117441 ; RCV000386269 ; RCV000527345
• dbSNP Id: rs9492266
• ExAC: 6:129511415 T / C
• gnomAD v2: 6-129511415-T-C
• gnomAD v3: 6-129190270-T-C
• gnomAD v4: 6-129190270-T-C
• MyVariant Identifiers: chr6:g.129511415T>C (hg19) ; chr6:g.129190270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129190270T>C , CM000668.2:g.129190270T>C	GRCh38
NC_000006.11:g.129511415T>C , CM000668.1:g.129511415T>C	GRCh37
NC_000006.10:g.129553108T>C	NCBI36
NG_008678.1:g.312130T>C , LRG_409:g.312130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.1533T>C	ENSP00000481744.2:p.Asn511=
ENST00000618192.5:c.1533T>C	ENSP00000480802.2:p.Asn511=
ENST00000686599.1:n.1638T>C
ENST00000690881.1:n.996T>C
ENST00000421865.3:c.1533T>C MANE Select	ENSP00000400365.2:p.Asn511=
ENST00000421865.2:c.1533T>C	ENSP00000400365.2:p.Asn511=
ENST00000617695.4:c.1533T>C	ENSP00000481744.1:p.Asn511=
ENST00000618192.4:c.1533T>C	ENSP00000480802.1:p.Asn511=
NM_000426.3:c.1533T>C , LRG_409t1:c.1533T>C	NP_000417.2:p.Asn511=
NM_001079823.1:c.1533T>C	NP_001073291.1:p.Asn511=
XM_005266981.2:c.1533T>C	XP_005267038.1:p.Asn511=
XM_005266982.2:c.1533T>C	XP_005267039.1:p.Asn511=
XM_011535820.1:c.1533T>C	XP_011534122.1:p.Asn511=
XM_005266981.3:c.1533T>C	XP_005267038.1:p.Asn511=
XM_005266982.3:c.1533T>C	XP_005267039.1:p.Asn511=
XM_011535820.2:c.1533T>C	XP_011534122.1:p.Asn511=
XM_017010851.2:c.1539T>C	XP_016866340.1:p.Asn513=
XM_017010853.1:c.1533T>C	XP_016866342.1:p.Asn511=
NM_000426.4:c.1533T>C MANE Select	NP_000417.3:p.Asn511=
NM_001079823.2:c.1533T>C	NP_001073291.2:p.Asn511=