Canonical Allele Identifier: CA3993332

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 965595
• ClinVar RCV Id: RCV001240086
• dbSNP Id: rs201391981
• ExAC: 6:129636759 C / A
• gnomAD v2: 6-129636759-C-A
• gnomAD v3: 6-129315614-C-A
• gnomAD v4: 6-129315614-C-A
• MyVariant Identifiers: chr6:g.129636759C>A (hg19) ; chr6:g.129315614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315614C>A , CM000668.2:g.129315614C>A	GRCh38
NC_000006.11:g.129636759C>A , CM000668.1:g.129636759C>A	GRCh37
NC_000006.10:g.129678452C>A	NCBI36
NG_008678.1:g.437474C>A , LRG_409:g.437474C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3694C>A	ENSP00000481744.2:p.Pro1232Thr
ENST00000618192.5:c.3958C>A	ENSP00000480802.2:p.Pro1320Thr
ENST00000421865.3:c.3694C>A MANE Select	ENSP00000400365.2:p.Pro1232Thr
ENST00000421865.2:c.3694C>A	ENSP00000400365.2:p.Pro1232Thr
ENST00000617695.4:c.3694C>A	ENSP00000481744.1:p.Pro1232Thr
ENST00000618192.4:c.3694C>A	ENSP00000480802.1:p.Pro1232Thr
NM_000426.3:c.3694C>A , LRG_409t1:c.3694C>A	NP_000417.2:p.Pro1232Thr
NM_001079823.1:c.3694C>A	NP_001073291.1:p.Pro1232Thr
XM_005266981.2:c.3958C>A	XP_005267038.1:p.Pro1320Thr
XM_005266982.2:c.3958C>A	XP_005267039.1:p.Pro1320Thr
XM_011535820.1:c.3958C>A	XP_011534122.1:p.Pro1320Thr
XM_005266981.3:c.3958C>A	XP_005267038.1:p.Pro1320Thr
XM_005266982.3:c.3958C>A	XP_005267039.1:p.Pro1320Thr
XM_011535820.2:c.3958C>A	XP_011534122.1:p.Pro1320Thr
XM_017010851.2:c.3964C>A	XP_016866340.1:p.Pro1322Thr
XM_017010852.1:c.2089C>A	XP_016866341.1:p.Pro697Thr
XM_017010853.1:c.3958C>A	XP_016866342.1:p.Pro1320Thr
NM_000426.4:c.3694C>A MANE Select	NP_000417.3:p.Pro1232Thr
NM_001079823.2:c.3694C>A	NP_001073291.2:p.Pro1232Thr