Canonical Allele Identifier: CA451926429

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2992346
• ClinVar RCV Id: RCV003855473
• MyVariant Identifiers: chr6:g.129723621T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129402476T>C , CM000668.2:g.129402476T>C	GRCh38
NC_000006.11:g.129723621T>C , CM000668.1:g.129723621T>C	GRCh37
NC_000006.10:g.129765314T>C	NCBI36
NG_008678.1:g.524336T>C , LRG_409:g.524336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.5715T>C	ENSP00000481744.2:p.Ala1905=
ENST00000618192.5:c.5979T>C	ENSP00000480802.2:p.Ala1993=
ENST00000421865.3:c.5715T>C MANE Select	ENSP00000400365.2:p.Ala1905=
ENST00000421865.2:c.5715T>C	ENSP00000400365.2:p.Ala1905=
ENST00000617695.4:c.5715T>C	ENSP00000481744.1:p.Ala1905=
ENST00000618192.4:c.5715T>C	ENSP00000480802.1:p.Ala1905=
NM_000426.3:c.5715T>C , LRG_409t1:c.5715T>C	NP_000417.2:p.Ala1905=
NM_001079823.1:c.5715T>C	NP_001073291.1:p.Ala1905=
XM_005266981.2:c.5979T>C	XP_005267038.1:p.Ala1993=
XM_005266982.2:c.5979T>C	XP_005267039.1:p.Ala1993=
XM_011535820.1:c.5979T>C	XP_011534122.1:p.Ala1993=
XM_005266981.3:c.5979T>C	XP_005267038.1:p.Ala1993=
XM_005266982.3:c.5979T>C	XP_005267039.1:p.Ala1993=
XM_011535820.2:c.5979T>C	XP_011534122.1:p.Ala1993=
XM_017010851.2:c.5985T>C	XP_016866340.1:p.Ala1995=
XM_017010852.1:c.4110T>C	XP_016866341.1:p.Ala1370=
NM_000426.4:c.5715T>C MANE Select	NP_000417.3:p.Ala1905=
NM_001079823.2:c.5715T>C	NP_001073291.2:p.Ala1905=